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.L576R

c.1727T>G

Surrounding Variants

2 papers

NM_000222.3

p.L576H

c.1727T>A

504 papers

NM_000222.3

p.L576P

c.1727T>C

1 paper

NM_000222.3

p.L576ins2

c.1727_1728ins6

1 paper

NM_000222.3

p.P577_Y578ins0

c.1729_1734dup6

1 paper

NM_000222.3

p.L576_H580ins1

c.1728_1739dup12

1 paper

NM_000222.3

p.L576_K581ins2

c.1728_1742dup15

1 paper

NM_000222.3

p.P577_S590ins4

c.1729_1770dup42

12 papers

NM_000222.3

p.P577del1

c.1729_1730delCCT

2 papers

NM_000222.3

p.P577_H580del0

c.1730_1738del9

1 paper

NM_000222.3

p.L576_P577ins5

c.1726_1730ins15

1 paper

NM_000222.3

p.R586ins10

c.1756_1757ins30

1 paper

NM_000222.3

p.P577_F591ins5

c.1729_1773dup45