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.F504S

c.1511T>C

Surrounding Variants

4 papers

NM_000222.3

p.F504L

c.1512T>A

5 papers

NM_000222.3

p.F504L

c.1510T>C

4 papers

NM_000222.3

p.F504L

c.1512T>G

1 paper

NM_000222.3

p.N505delFs

c.1513delA

1 paper

NM_000222.3

p.F508_K509ins4

c.1524_1525ins12

5 papers

NM_000222.3

p.N505H

c.1513A>C

1 paper

NM_000222.3

p.N505D

c.1513A>G

1 paper

NM_000222.3

p.Y503Y

c.1509T>C

1 paper

NM_000222.3

p.F504ins2

c.1510_1511ins6

1 paper

NM_000222.3

p.N505ins2

c.1513_1514ins6

9 papers

NM_000222.3

p.N505I

c.1514A>T

3 papers

NM_000222.3

p.Y503F

c.1508A>T