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

5 papers

NM_000222.3

p.E583D

c.1749G>C

Surrounding Variants

1 paper

NM_000222.3

p.F584insFs

c.1751dupT

5 papers

NM_000222.3

p.E583D

c.1749G>T

1 paper

NM_000222.3

p.E583ins8

c.1748_1749ins24

2 papers

NM_000222.3

p.E583G

c.1748A>G

2 papers

NM_000222.3

p.E583V

c.1748A>T

1 paper

NM_000222.3

p.F584_L589del6

c.1750_1766del18

1 paper

NM_000222.3

p.F584I

c.1750T>A

17 papers

NM_000222.3

p.F584L

c.1750T>C

12 papers

NM_000222.3

p.E583K

c.1747G>A

2 papers

NM_000222.3

p.E583Q

c.1747G>C

1 paper

NM_000222.3

p.E583_F584ins8

c.1747_1751ins24

1 paper

NM_000222.3

p.E583_R586del0

c.1748_1756del9