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

5 papers

NM_000222.3

p.F506L

c.1518T>G

Surrounding Variants

5 papers

NM_000222.3

p.F506L

c.1518T>A

1 paper

NM_000222.3

p.F506F

c.1518T>C

3 papers

NM_000222.3

p.A507T

c.1519G>A

2 papers

NM_000222.3

p.A507P

c.1519G>C

1 paper

NM_000222.3

p.F506S

c.1517T>C

1 paper

NM_000222.3

p.A507G

c.1520C>G

3 papers

NM_000222.3

p.A507V

c.1520C>T

5 papers

NM_000222.3

p.F506L

c.1516T>C

2 papers

NM_000222.3

p.F506delins

c.1517_1518delinsTT

1 paper

NM_000222.3

p.A507A

c.1521A>T

1 paper

NM_000222.3

p.F508delFs

c.1524delT

7 papers

NM_000222.3

p.F508del1

c.1522_1523delTTT