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

1 paper

NM_000222.3

p.Y494*

c.1482C>A

Surrounding Variants

1 paper

NM_000222.3

p.Y494*

c.1482C>G

1 paper

NM_000222.3

p.Y494Y

c.1482C>T

1 paper

NM_000222.3

p.Y494C

c.1481A>G

2 papers

NM_000222.3

p.N495I

c.1484A>T

2 papers

NM_000222.3

p.N495N

c.1485C>T

1 paper

NM_000222.3

p.A493D

c.1478C>A

1 paper

NM_000222.3

p.A493V

c.1478C>T

7 papers

NM_000222.3

p.D496N

c.1486G>A

1 paper

NM_000222.3

p.D496fs

c.1486_1487fs

3 papers

NM_000222.3

p.D496V

c.1487A>T

3 papers

NM_000222.3

p.A493T

c.1477G>A

1 paper

NM_000222.3

p.A493P

c.1477G>C