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.N652Y

c.1954A>T

Surrounding Variants

1 paper

NM_000222.3

p.M651I

c.1953G>A

1 paper

NM_000222.3

p.M651I

c.1953G>C

1 paper

NM_000222.3

p.M651I

c.1953G>T

1 paper

NM_000222.3

p.M651T

c.1952T>C

1 paper

NM_000222.3

p.I653fs

c.1957_1958fs

5 papers

NM_000222.3

p.M651L

c.1951A>C

5 papers

NM_000222.3

p.M651V

c.1951A>G

5 papers

NM_000222.3

p.M651L

c.1951A>T

1 paper

NM_000222.3

p.I653F

c.1957A>T

7 papers

NM_000222.3

p.I653T

c.1958T>C

4 papers

NM_000222.3

p.H650P

c.1949A>C

1 paper

NM_000222.3

p.H650R

c.1949A>G