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

2 papers

NM_000222.3

p.N564del1

c.1690_1692delAAT

Surrounding Variants

2 papers

NM_000222.3

p.I563M

c.1689A>G

1 paper

NM_000222.3

p.N564_G565delFs

c.1690_1694del5

1 paper

NM_000222.3

p.N564_N567del0

c.1690_1701del12

1 paper

NM_000222.3

p.N564_Y568del0

c.1690_1704del15

1 paper

NM_000222.3

p.N564_T574delFs

c.1692_1720del29

5 papers

NM_000222.3

p.N564_L576del13

c.1690_1727del39

2 papers

NM_000222.3

p.N564_Y578del0

c.1690_1734del45

2 papers

NM_000222.3

p.N564H

c.1690A>C

1 paper

NM_000222.3

p.N564D

c.1690A>G

1 paper

NM_000222.3

p.N564Y

c.1690A>T

1 paper

NM_000222.3

p.N564_T574Fs

c.1690_1720delinsCATGGGAAACAFs

8 papers

NM_000222.3

p.I563K

c.1688T>A