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.L813I

c.2437C>A

Surrounding Variants

4 papers

NM_000222.3

p.L813P

c.2438T>C

1 paper

NM_000222.3

p.L813L

c.2439A>T

4 papers

NM_000222.3

p.G812D

c.2435G>A

15 papers

NM_000222.3

p.G812V

c.2435G>T

7 papers

NM_000222.3

p.A814T

c.2440G>A

1 paper

NM_000222.3

p.G812S

c.2434G>A

2 papers

NM_000222.3

p.G812R

c.2434G>C

1 paper

NM_000222.3

p.A814P

c.2440G>C

10 papers

NM_000222.3

p.A814S

c.2440G>T

2 papers

NM_000222.3

p.G812C

c.2434G>T

1 paper

NM_000222.3

p.A814ins2

c.2441_2442ins6

3 papers

NM_000222.3

p.A814V

c.2441C>T