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.V457L

c.1369G>T

Surrounding Variants

2 papers

NM_000222.3

p.V457M

c.1369G>A

1 paper

NM_000222.3

p.V457L

c.1369G>C

1 paper

NM_000222.3

p.P456Q

c.1367C>A

1 paper

NM_000222.3

p.P456R

c.1367C>G

2 papers

NM_000222.3

p.P456L

c.1367C>T

7 papers

NM_000222.3

p.P456S

c.1366C>T

1 paper

NM_000222.3

p.D458N

c.1372G>A

1 paper

NM_000222.3

p.D458Y

c.1372G>T

1 paper

NM_000222.3

p.D458E

c.1374T>A

1 paper

NM_000222.3

p.D458E

c.1374T>G

1 paper

NM_000222.3

p.V457_P467del11

c.1369_1400del33

1 paper

NM_000222.3

p.L455M

c.1363C>A