Side Menu

NF1

Basic information

Official gene symbol
neurofibromin 1
Conventional gene symbol
NFNS, VRNF, WSS
Classification
Tumor suppressor gene
Official gene ID
4763(Refseq)
4763 (KEGG)
Transcript ID
NM_001042492
Functional classification
Tumor growth and progression
Signaling pathway
MAPK
Chromosomal location
17q11.2 (chr17:29422328..29701173)
Protein length
2,839

Chromosome ideogram

Pathway map

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chr17:29483049 G T 2 / 58 p.E37* c.109G>T COSV100648470 Tier2 1 / 204
chr17:29490291 G T 4 / 58 p.E126* c.376G>T COSV62222291 Tier2 1 / 204
chr17:29497003 C T 5 / 58 p.R192* c.574C>T COSV62197492 Tier2 1 / 204
chr17:29527461 C T 9 / 58 p.R304* c.910C>T COSV62192041 Tier2 2 / 204
chr17:29541542 A G 13 / 58 p.Y489C c.1466A>G COSV62194445 Tier2 1 / 204
chr17:29552152 G A 17 / 58 p.G629R c.1885G>A COSV62198667 Tier2 1 / 204
chr17:29553495 C T 18 / 58 p.Q682* c.2044C>T COSV100646956 Tier2 1 / 204
chr17:29556079 C T 21 / 58 p.R816* c.2446C>T COSV62196183 Tier2 1 / 204
chr17:29556144 G A 21 / 58 p.W837* c.2511G>A   Tier2 1 / 204
chr17:29556423 T A 21 / 58 p.Y930* c.2790T>A   Tier2 1 / 204
chr17:29556481 C T 21 / 58 p.Q950* c.2848C>T COSV62201077 Tier2 1 / 204
chr17:29557904 C G 24 / 58 p.S1053* c.3158C>G COSV62228498 Tier2 1 / 204
chr17:29559136 TG T 25 / 58 p.G1082fs c.3245delG   Tier2 1 / 204
chr17:29559797 CG C 26 / 58 p.R1132fs c.3395delG   Tier2 1 / 204
chr17:29560043 C T 27 / 58 p.Q1174* c.3520C>T COSV62192372 Tier2 1 / 204
chr17:29562641 C T 28 / 58 p.R1241* c.3721C>T COSV62191467 Tier2 2 / 204
chr17:29562710 G T 28 / 58 p.E1264* c.3790G>T COSV62202697 Tier2 1 / 204
chr17:29562716 G T 28 / 58 p.E1266* c.3796G>T   Tier2 1 / 204
chr17:29562731 A AT 28 / 58 p.M1271fs c.3812dupT   Tier2 1 / 204
chr17:29562747 G A 28 / 58 p.R1276Q c.3827G>A COSV62196628 Tier2 1 / 204
chr17:29562981 C T 29 / 58 p.R1306* c.3916C>T COSV62193951 Tier2 1 / 204
chr17:29576110 TCGAAGTGTGTG T 30 / 58 p.R1362fs c.4085_4095delGAAGTGTGTGC   Tier2 1 / 204
chr17:29576111 C T 30 / 58 p.R1362* c.4084C>T COSV62191433 Tier1 1 / 204
chr17:29585378 TCCCTCAGAACAGCA T 32 / 58 p.P1398fs c.4191_4204delCCCTCAGAACAGCA   Tier2 1 / 204
chr17:29585404 G T 32 / 58 p.G1406* c.4216G>T COSV62208360 Tier2 1 / 204
chr17:29585516 C G 32 / 58 p.S1443* c.4328C>G COSV62205630 Tier2 2 / 204
chr17:29588751 C T 35 / 58 p.R1534* c.4600C>T COSV62191852 Tier2 1 / 204
chr17:29592251 C T 36 / 58 p.Q1577* c.4729C>T COSV62208520 Tier2 1 / 204
chr17:29592266 G T 36 / 58 p.E1582* c.4744G>T COSV62222974 Tier2 1 / 204
chr17:29652877 C A 37 / 58 p.Y1625* c.4875C>A COSV55985556 Tier2 1 / 204
chr17:29652920 G T 37 / 58 p.E1640* c.4918G>T   Tier2 1 / 204
chr17:29654634 G T 38 / 58 p.E1796* c.5386G>T COSV62213618 Tier2 1 / 204
chr17:29661945 C T 40 / 58 p.R1968* c.5902C>T COSV62199973 Tier2 2 / 204
chr17:29661948 CAA C 40 / 58 p.R1970fs c.5907_5908delAA   Tier2 1 / 204
chr17:29661996 G T 40 / 58 p.E1985* c.5953G>T   Tier2 1 / 204
chr17:29663414 G T 41 / 58 p.G2024* c.6070G>T COSV62199782 Tier2 1 / 204
chr17:29663774 TCAACAATTCCCTTGATGTGG T 42 / 58 p.N2091fs c.6272_6291delACAATTCCCTTGATGTGGCA   Tier2 1 / 204
chr17:29664469 AAGTCAGCTGCTGTCATTGCCTTCCGTTCC A 43 / 58 p.S2172fs c.6515_6543delCAGCTGCTGTCATTGCCTTCCGTTCCAGT   Tier2 1 / 204
chr17:29664515 C G 43 / 58 p.S2186* c.6557C>G   Tier2 1 / 204
chr17:29665117 C CG 45 / 58 p.H2261fs c.6779_6780insG   Tier2 1 / 204
chr17:29665751 CACTT C 46 / 58 p.Y2285fs c.6852_6855delTTAC COSV62192155 Tier2 1 / 204
chr17:29670138 G T 48 / 58 p.G2392* c.7174G>T   Tier2 1 / 204
chr17:29677208 TAC T 50 / 58 p.T2444fs c.7331_7332delCA   Tier2 1 / 204
chr17:29677227 C T 50 / 58 p.R2450* c.7348C>T COSV62193225 Tier2 8 / 204
chr17:29679408 C T 51 / 58 p.Q2531* c.7591C>T COSV62228825 Tier2 1 / 204
chr17:29683585 A ACAAT 52 / 58 p.D2576fs c.7724_7725insAATC   Tier2 1 / 204
chr17:29683999 C A 53 / 58 p.S2587* c.7760C>A   Tier2 1 / 204
chr17:29684008 ACC A 53 / 58 p.P2591fs c.7771_7772delCC   Tier2 1 / 204
chr17:29684326 C T 54 / 58 p.R2637* c.7909C>T COSV62195872 Tier2 1 / 204
chr17:29684360 TTG T 54 / 58 p.F2650fs c.7947_7948delGT COSV62212465 Tier2 1 / 204
chr17:29685622 C T 55 / 58 p.Q2699* c.8095C>T COSV62212231 Tier2 1 / 204
chr17:29686019 G T 56 / 58 p.G2716* c.8146G>T   Tier2 1 / 204