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.D357E

c.1071T>A

Surrounding Variants

1 paper

NM_000222.3

p.D357E

c.1071T>G

1 paper

NM_000222.3

p.K358Q

c.1072A>C

1 paper

NM_000222.3

p.D357N

c.1069G>A

1 paper

NM_000222.3

p.T356S

c.1067C>G

1 paper

NM_000222.3

p.W359R

c.1075T>C

1 paper

NM_000222.3

p.T356A

c.1066A>G

2 papers

NM_000222.3

p.T356S

c.1066A>T

1 paper

NM_000222.3

p.W359*

c.1076G>A

2 papers

NM_000222.3

p.W359L

c.1076G>T

3 papers

NM_000222.3

p.F355L

c.1065C>A

3 papers

NM_000222.3

p.F355L

c.1065C>G

1 paper

NM_000222.3

p.E360K

c.1078G>A