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.N567D

c.1699A>G

Surrounding Variants

1 paper

NM_000222.3

p.N567Y

c.1699A>T

1 paper

NM_000222.3

p.N567_Q575del0

c.1701_1724del24

1 paper

NM_000222.3

p.N567_L576del0

c.1700_1726del27

6 papers

NM_000222.3

p.N567S

c.1700A>G

2 papers

NM_000222.3

p.N567I

c.1700A>T

1 paper

NM_000222.3

p.N567_L576delins

c.1700_1726delinsGTTGTG

1 paper

NM_000222.3

p.Y568_L576del9

c.1702_1727del27

2 papers

NM_000222.3

p.N567_L576delFs

c.1701_1728del28

1 paper

NM_000222.3

p.V569_Y578del10

c.1705_1733del30

1 paper

NM_000222.3

p.N566K

c.1698C>A

1 paper

NM_000222.3

p.N566_N567insFs

c.1698_1699insG

1 paper

NM_000222.3

p.N566K

c.1698C>G