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

11 papers

NM_000222.3

p.F584S

c.1751T>C

Surrounding Variants

1 paper

NM_000222.3

p.F584Y

c.1751T>A

11 papers

NM_000222.3

p.F584C

c.1751T>G

17 papers

NM_000222.3

p.F584L

c.1752T>A

1 paper

NM_000222.3

p.F584I

c.1750T>A

17 papers

NM_000222.3

p.F584L

c.1750T>C

17 papers

NM_000222.3

p.F584L

c.1752T>G

1 paper

NM_000222.3

p.P585_N587ins1

c.1753_1761dup9

4 papers

NM_000222.3

p.P585T

c.1753C>A

1 paper

NM_000222.3

p.P585_R586insC

c.1753_1757ins3

2 papers

NM_000222.3

p.P585_R586ins14

c.1753_1757ins42

6 papers

NM_000222.3

p.P585S

c.1753C>T

5 papers

NM_000222.3

p.E583D

c.1749G>C