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.V654V

c.1962G>T

Surrounding Variants

1 paper

NM_000222.3

p.N655_L656del2

c.1963_1967del6

1 paper

NM_000222.3

p.N655D

c.1963A>G

4 papers

NM_000222.3

p.V654E

c.1961T>A

312 papers

NM_000222.3

p.V654A

c.1961T>C

6 papers

NM_000222.3

p.N655T

c.1964A>C

5 papers

NM_000222.3

p.N655S

c.1964A>G

5 papers

NM_000222.3

p.V654M

c.1960G>A

3 papers

NM_000222.3

p.V654L

c.1960G>C

3 papers

NM_000222.3

p.V654L

c.1960G>T

50 papers

NM_000222.3

p.N655K

c.1965T>A

50 papers

NM_000222.3

p.N655K

c.1965T>G

1 paper

NM_000222.3

p.L656I

c.1966C>A