Side Menu

KEAP1

Basic information

Official gene symbol
kelch like ECH associated protein 1
Conventional gene symbol
INrf2, KLHL19
Classification
Tumor suppressor gene
Official gene ID
9817(Refseq)
9817 (KEGG)
Transcript ID
NM_203500
Functional classification
Response to oxidative stress
Signaling pathway
KEAP1/NRF2
Chromosomal location
19p13.2 (chr19:10597328..10610709, complement)
Protein length
624

Chromosome ideogram

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
chr19:10610109 G A 2 / 6 p.Q201* c.601C>T COSV99407222 Tier2 1 / 120
chr19:10610133 G A 2 / 6 p.Q193* c.577C>T COSV99407853 Tier2 1 / 120
chr19:10610134 C CT 2 / 6 p.Q193fs c.575dupA   Tier2 1 / 120
chr19:10610310 C A 2 / 6 p.E134* c.400G>T COSV99408115 Tier2 1 / 120
chr19:10610388 T A 2 / 6 p.K108* c.322A>T   Tier2 2 / 120
chr19:10610532 T TA 2 / 6 p.T60fs c.177dupT   Tier2 1 / 120
chr19:10610560 GCGGTTGC G 2 / 6 p.G48fs c.143_149delGCAACCG   Tier2 1 / 120
chr19:10602314 C T 3 / 6 p.D422N c.1264G>A COSV50280001 Tier1 1 / 120
chr19:10602370 C T 3 / 6 p.W403* c.1208G>A COSV50416528 Tier2 1 / 120
chr19:10602503 G A 3 / 6 p.Q359* c.1075C>T COSV50640276 Tier2 1 / 120
chr19:10602619 C T 3 / 6 p.R320Q c.959G>A COSV50274400 Tier1 1 / 120
chr19:10602806 C A 3 / 6 p.E258* c.772G>T COSV50284808 Tier2 1 / 120
chr19:10602850 G C 3 / 6 p.S243C c.728C>G COSV50285689 Tier1 1 / 120
chr19:10602903 G GT 3 / 6 p.H225fs c.674dupA   Tier2 1 / 120
chr19:10602927 TTGCTTGGCCACCTGCAGAGGGCGAC T 3 / 6 p.V214fs c.640-14_650delGTCGCCCTCTGCAGGTGGCCAAGCA   Tier2 1 / 120
chr19:10600447 G A 4 / 6 p.R470C c.1408C>T COSV50260643 Tier1 1 / 120
chr19:10600480 G A 4 / 6 p.R459* c.1375C>T   Tier2 1 / 120
chr19:10600501 AG A 4 / 6 p.L452fs c.1353delC COSV50276962 Tier2 1 / 120
chr19:10599948 GTC G 5 / 6 p.E542fs c.1626_1627delGA COSV50658442 Tier2 1 / 120
chr19:10599994 G A 5 / 6 p.Q528* c.1582C>T   Tier2 1 / 120