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.A502T

c.1504G>A

Surrounding Variants

1 paper

NM_000222.3

p.Y503_F504ins2

c.1509_1510ins6

1 paper

NM_000222.3

p.A502_Y503insYA

c.1504_1508ins6

1 paper

NM_000222.3

p.A502S

c.1504G>T

1 paper

NM_000222.3

p.A502D

c.1505C>A

2 papers

NM_000222.3

p.A502V

c.1505C>T

1 paper

NM_000222.3

p.S501_A502ins2

c.1503_1504ins6

48 papers

NM_000222.3

p.S501ins2

c.1502_1503ins6

3 papers

NM_000222.3

p.Y503ins2

c.1507_1508ins6

3 papers

NM_000222.3

p.S501F

c.1502C>T

1 paper

NM_000222.3

p.Y503del1

c.1507_1508delTAT

2 papers

NM_000222.3

p.Y503N

c.1507T>A

3 papers

NM_000222.3

p.Y503H

c.1507T>C