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.E225insFs

c.673_674ins4

Surrounding Variants

1 paper

NM_000222.3

p.E225K

c.673G>A

1 paper

NM_000222.3

p.E225Q

c.673G>C

1 paper

NM_000222.3

p.E225*

c.673G>T

2 papers

NM_000222.3

p.E225fs

c.673_674fs

2 papers

NM_000222.3

p.R224S

c.672G>C

1 paper

NM_000222.3

p.R224_E225insFs

c.672_673insA

2 papers

NM_000222.3

p.R224S

c.672G>T

1 paper

NM_000222.3

p.G226delFs

c.676_677delGG

1 paper

NM_000222.3

p.R224K

c.671G>A

1 paper

NM_000222.3

p.R224T

c.671G>C

3 papers

NM_000222.3

p.R224G

c.670A>G

1 paper

NM_000222.3

p.R224W

c.670A>T