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.T574_Q575ins4

c.1722_1723ins12

Surrounding Variants

2 papers

NM_000222.3

p.I571_D572ins6

c.1713_1714ins18

3 papers

NM_000222.3

p.I571M

c.1713A>G

2 papers

NM_000222.3

p.D572del1

c.1714_1715delGAC

1 paper

NM_000222.3

p.D572_D579del0

c.1716_1736del21

8 papers

NM_000222.3

p.D572N

c.1714G>A

1 paper

NM_000222.3

p.D572insFs

c.1715dupA

1 paper

NM_000222.3

p.D572_Y578ins2

c.1716_1733dup18

2 papers

NM_000222.3

p.P573_H580ins2

c.1717_1740dup24

1 paper

NM_000222.3

p.D572_R586ins5

c.1715_1756dup42

1 paper

NM_000222.3

p.P573_N587ins5

c.1717_1761dup45

3 papers

NM_000222.3

p.D572Y

c.1714G>T

1 paper

NM_000222.3

p.P573_H580del8

c.1717_1739del24