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

7 papers

NM_000222.3

p.W582*

c.1745G>A

Surrounding Variants

3 papers

NM_000222.3

p.W582S

c.1745G>C

2 papers

NM_000222.3

p.W582L

c.1745G>T

7 papers

NM_000222.3

p.W582*

c.1746G>A

1 paper

NM_000222.3

p.W582R

c.1744T>A

1 paper

NM_000222.3

p.W582R

c.1744T>C

1 paper

NM_000222.3

p.W582G

c.1744T>G

1 paper

NM_000222.3

p.W582_P585ins1

c.1745_1753dup9

1 paper

NM_000222.3

p.W582_E583ins13

c.1744_1748ins39

1 paper

NM_000222.3

p.W582fs

c.1744_1745fs

1 paper

NM_000222.3

p.W582ins0

c.1744_1746dupTGG

12 papers

NM_000222.3

p.E583K

c.1747G>A

2 papers

NM_000222.3

p.E583Q

c.1747G>C