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.I612T

c.1835T>C

Surrounding Variants

1 paper

NM_000222.3

p.I612_L625ins4

c.1836_1874dup39

1 paper

NM_000222.3

p.K613_K626insFs

c.1838_1877dup40

3 papers

NM_000222.3

p.L611F

c.1833A>C

3 papers

NM_000222.3

p.L611F

c.1833A>T

1 paper

NM_000222.3

p.K613*

c.1837A>T

4 papers

NM_000222.3

p.L611S

c.1832T>C

1 paper

NM_000222.3

p.S614P

c.1840T>C

2 papers

NM_000222.3

p.S614*

c.1841C>A

1 paper

NM_000222.3

p.S614_V622ins3

c.1842_1865dup24

2 papers

NM_000222.3

p.S614*

c.1841C>G

7 papers

NM_000222.3

p.G610D

c.1829G>A

1 paper

NM_000222.3

p.D615N

c.1843G>A