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

15 papers

NM_000222.3

p.Q252H

c.756G>T

Surrounding Variants

15 papers

NM_000222.3

p.Q252H

c.756G>C

1 paper

NM_000222.3

p.Q252P

c.755A>C

2 papers

NM_000222.3

p.Q252R

c.755A>G

16 papers

NM_000222.3

p.Q252L

c.755A>T

1 paper

NM_000222.3

p.Q252_T253Splc

c.756+1G>C

2 papers

NM_000222.3

p.Q252K

c.754C>A

2 papers

NM_000222.3

p.Q252E

c.754C>G

3 papers

NM_000222.3

p.S251R

c.753T>A

1 paper

NM_000222.3

p.S251R

c.753T>G

1 paper

NM_000222.3

p.S251N

c.752G>A

1 paper

NM_000222.3

p.S251I

c.752G>T

1 paper

NM_000222.3

p.S251R

c.751A>C