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.S365T

c.1093T>A

Surrounding Variants

1 paper

NM_000222.3

p.S365C

c.1094C>G

1 paper

NM_000222.3

p.S365F

c.1094C>T

1 paper

NM_000222.3

p.K364N

c.1092G>C

1 paper

NM_000222.3

p.K364N

c.1092G>T

4 papers

NM_000222.3

p.K364R

c.1091A>G

2 papers

NM_000222.3

p.K364M

c.1091A>T

1 paper

NM_000222.3

p.K364Q

c.1090A>C

1 paper

NM_000222.3

p.P363L

c.1088C>T

1 paper

NM_000222.3

p.P363_E368del0

c.1089_1103del15

1 paper

NM_000222.3

p.E366D

c.1098G>C

1 paper

NM_000222.3

p.E366D

c.1098G>T

1 paper

NM_000222.3

p.N367delFs

c.1100delA