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

6 papers

NM_000222.3

p.E76K

c.226G>A

Surrounding Variants

3 papers

NM_000222.3

p.E76Q

c.226G>C

1 paper

NM_000222.3

p.E76_Q79delFs

c.227_236del10

2 papers

NM_000222.3

p.E76A

c.227A>C

4 papers

NM_000222.3

p.E76G

c.227A>G

1 paper

NM_000222.3

p.E76V

c.227A>T

1 paper

NM_000222.3

p.E76E

c.228G>A

1 paper

NM_000222.3

p.E76D

c.228G>C

2 papers

NM_000222.3

p.E76D

c.228G>T

1 paper

NM_000222.3

p.N75D

c.223A>G

1 paper

NM_000222.3

p.N77D

c.229A>G

1 paper

NM_000222.3

p.N77Y

c.229A>T

1 paper

NM_000222.3

p.N77S

c.230A>G