Varaico: Literature-Extracted Genetic Variants

ALK

3,554 papers

RefSeq Summary

This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass t...

Pfam Domains

MAMaa 480–635UCSCMAM domain, meprin/A5/mu

ALK_LTK_GRDaa 728–989UCSCALK/LTK, Glycine-rich domain

PK_Tyr_Ser-Thraa 1116–1383UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

ALK receptor tyrosine kinase

HGNC Alias Symbols

CD246; ALK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_004304.5

p.A195V

c.584C>T

Surrounding Variants

1 paper

NM_004304.5

p.S196S

c.588G>A

4 papers

NM_004304.5

p.V198M

c.592G>A

1 paper

NM_004304.5

p.V198A

c.593T>C

1 paper

NM_004304.5

p.E192K

c.574G>A

1 paper

NM_004304.5

p.G199V

c.596G>T

1 paper

NM_004304.5

p.G199A

c.596G>C

1 paper

NM_004304.5

p.S175_M190del16

c.523_569del48

1 paper

NM_004304.5

p.R200G

c.598A>G

1 paper

NM_004304.5

p.R200K

c.599G>A

1 paper

NM_004304.5

p.R200fs

c.598_599fs

1 paper

NM_004304.5

p.L189delFs

c.567delC

1 paper

NM_004304.5

p.E201*

c.601G>T