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.A814P

c.2440G>C

Surrounding Variants

7 papers

NM_000222.3

p.A814T

c.2440G>A

10 papers

NM_000222.3

p.A814S

c.2440G>T

1 paper

NM_000222.3

p.L813L

c.2439A>T

1 paper

NM_000222.3

p.A814ins2

c.2441_2442ins6

3 papers

NM_000222.3

p.A814V

c.2441C>T

1 paper

NM_000222.3

p.R815_I817del0

c.2444_2449del6

1 paper

NM_000222.3

p.A814_R815insFs

c.2442_2443insGT

4 papers

NM_000222.3

p.L813P

c.2438T>C

2 papers

NM_000222.3

p.R815ins4

c.2444_2445ins12

3 papers

NM_000222.3

p.R815G

c.2443A>G

1 paper

NM_000222.3

p.R815delFs

c.2444delG

1 paper

NM_000222.3

p.R815fs

c.2443_2444fs