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SMAD2

Basic information

Official gene symbol
SMAD family member 2
Conventional gene symbol
JV18, JV18-1, MADH2, MADR2, hMAD-2, hSMAD2
Classification
Tumor suppressor gene
Official gene ID
4087(Refseq)
4087 (KEGG)
Transcript ID
NM_001003652
Functional classification
Tumor growth and progression
Signaling pathway
TGF-B
Chromosomal location
18q21.1 (chr18:45368198..45423127, complement)
Protein length
467

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
chr18:45422959 G A 2 / 11 p.R57* c.169C>T COSV50994213 Tier2 2 / 74
chr18:45422962 C A 2 / 11 p.G56* c.166G>T   Tier2 1 / 74
chr18:45395625 ACT A 4 / 11 p.R169fs c.507_508delAG   Tier2 2 / 74
chr18:45395629 T A 4 / 11 p.R169* c.505A>T   Tier2 1 / 74
chr18:45395639 G GT 4 / 11 p.Y165fs c.494dupA   Tier2 1 / 74
chr18:45395746 G A 4 / 11 p.R130* c.388C>T COSV51031081 Tier2 1 / 74
chr18:45395747 G T 4 / 11 p.C129* c.387C>A   Tier2 1 / 74
chr18:45395776 G A 4 / 11 p.R120* c.358C>T COSV51030512 Tier2 2 / 74
chr18:45394784 C A 5 / 11 p.E189* c.565G>T COSV100053459 Tier2 2 / 74
chr18:45394805 G A 5 / 11 p.R182* c.544C>T COSV50993252 Tier2 1 / 74
chr18:45391454 G A 6 / 11 p.Q236* c.706C>T   Tier2 1 / 74
chr18:45374867 C A 8 / 11 p.E326* c.976G>T   Tier2 1 / 74
chr18:45374881 C T 8 / 11 p.R321Q c.962G>A COSV50994862 Tier2 6 / 74
chr18:45374965 G T 8 / 11 p.S293* c.878C>A   Tier2 1 / 74
chr18:45375000 TTCATAA T 8 / 11 p.Y279_E281delins* c.837_842delTTATGA   Tier2 1 / 74
chr18:45375016 G A 8 / 11 p.S276L c.827C>T COSV50992817 Tier2 3 / 74
chr18:45372065 C T 9 / 11 p.W368* c.1104G>A COSV100053508 Tier2 1 / 74
chr18:45372129 GC G 9 / 11 p.A347fs c.1039delG   Tier2 1 / 74
chr18:45371772 G A 10 / 11 p.Q407* c.1219C>T   Tier2 1 / 74
chr18:45368202 G T 11 / 11 p.S467* c.1400C>A   Tier2 1 / 74
chr18:45368211 G C 11 / 11 p.S464* c.1391C>G COSV50992894 Tier2 3 / 74
chr18:45368213 G T 11 / 11 p.C463* c.1389C>A COSV51007044 Tier2 2 / 74
chr18:45368223 G T 11 / 11 p.S460* c.1379C>A COSV100053482 Tier2 1 / 74