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.R353S

c.1059A>C

Surrounding Variants

1 paper

NM_000222.3

p.R353S

c.1059A>T

1 paper

NM_000222.3

p.T354A

c.1060A>G

1 paper

NM_000222.3

p.R353K

c.1058G>A

1 paper

NM_000222.3

p.R353I

c.1058G>T

1 paper

NM_000222.3

p.R353G

c.1057A>G

1 paper

NM_000222.3

p.T354N

c.1061C>A

1 paper

NM_000222.3

p.T354I

c.1061C>T

1 paper

NM_000222.3

p.N352K

c.1056C>A

1 paper

NM_000222.3

p.N352K

c.1056C>G

2 papers

NM_000222.3

p.N352S

c.1055A>G

1 paper

NM_000222.3

p.F355I

c.1063T>A

3 papers

NM_000222.3

p.F355L

c.1063T>C