Varaico: Literature-Extracted Genetic Variants

KIT

4,821 papers

RefSeq Summary

This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical...

Pfam Domains

igaa 219–304UCSCImmunoglobulin domain

Ig_PDGFR_d4aa 421–542UCSCPlatelet-derived growth factor receptor Ig-like domain 4

PK_Tyr_Ser-Thraa 590–924UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

KIT proto-oncogene, receptor tyrosine kinase

HGNC Previous Symbol

PBT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

16 papers

NM_000222.3

p.I817V

c.2449A>G

Surrounding Variants

7 papers

NM_000222.3

p.I817L

c.2449A>C

1 paper

NM_000222.3

p.I817fs

c.2449_2450fs

54 papers

NM_000222.3

p.D816E

c.2448C>A

55 papers

NM_000222.3

p.D816E

c.2448C>G

1 paper

NM_000222.3

p.I817delFs

c.2449delA

1 paper

NM_000222.3

p.I817N

c.2450T>A

2 papers

NM_000222.3

p.I817T

c.2450T>C

46 papers

NM_000222.3

p.D816A

c.2447A>C

49 papers

NM_000222.3

p.D816G

c.2447A>G

1371 papers

NM_000222.3

p.D816V

c.2447A>T

NM_001093772.2

p.D812V

c.2435A>T

2 papers

NM_000222.3

p.I817M

c.2451C>G

1 paper

NM_000222.3

p.I817I

c.2451C>T