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.Q556E

c.1666C>G

Surrounding Variants

1 paper

NM_000222.3

p.Q556K

c.1666C>A

1 paper

NM_000222.3

p.Q556fs

c.1666_1667fs

1 paper

NM_000222.3

p.Q556*

c.1666C>T

1 paper

NM_000222.3

p.Q556fs

c.1666_1667fs

3 papers

NM_000222.3

p.Q556_W557del1

c.1667_1669delAGT

55 papers

NM_000222.3

p.Q556_K558del0

c.1667_1672del6

1 paper

NM_000222.3

p.Q556_K558delFs

c.1667_1674del8

25 papers

NM_000222.3

p.W557_E561del0

c.1669_1683del15

1 paper

NM_000222.3

p.W557_E562del6

c.1669_1685del18

1 paper

NM_000222.3

p.Q556_I563del0

c.1667_1687del21

1 paper

NM_000222.3

p.Q556_N564del0

c.1668_1691del24

1 paper

NM_000222.3

p.Q556ins0

c.1666_1668dupCAG