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

2 papers

NM_000222.3

p.G648S

c.1942G>A

Surrounding Variants

2 papers

NM_000222.3

p.G648D

c.1943G>A

1 paper

NM_000222.3

p.L647H

c.1940T>A

5 papers

NM_000222.3

p.L647P

c.1940T>C

14 papers

NM_000222.3

p.N649D

c.1945A>G

8 papers

NM_000222.3

p.L647F

c.1939C>T

4 papers

NM_000222.3

p.N649S

c.1946A>G

1 paper

NM_000222.3

p.Y646S

c.1937A>C

3 papers

NM_000222.3

p.Y646C

c.1937A>G

1 paper

NM_000222.3

p.Y646F

c.1937A>T

1 paper

NM_000222.3

p.H650N

c.1948C>A

2 papers

NM_000222.3

p.H650Y

c.1948C>T

2 papers

NM_000222.3

p.Y646N

c.1936T>A