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.Q347E

c.1039C>G

Surrounding Variants

3 papers

NM_000222.3

p.Q347K

c.1039C>A

5 papers

NM_000222.3

p.Q347*

c.1039C>T

1 paper

NM_000222.3

p.Q347R

c.1040A>G

1 paper

NM_000222.3

p.Q347L

c.1040A>T

1 paper

NM_000222.3

p.Q346Q

c.1038G>A

3 papers

NM_000222.3

p.Q346H

c.1038G>C

2 papers

NM_000222.3

p.Q346H

c.1038G>T

1 paper

NM_000222.3

p.Q346R

c.1037A>G

4 papers

NM_000222.3

p.Q346L

c.1037A>T

1 paper

NM_000222.3

p.Q347H

c.1041G>C

1 paper

NM_000222.3

p.Q347H

c.1041G>T

2 papers

NM_000222.3

p.H345_Q346delins

c.1035_1036delinsCA