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

1 paper

NM_004304.5

p.A55G

c.164C>G

Surrounding Variants

1 paper

NM_004304.5

p.A55E

c.164C>A

1 paper

NM_004304.5

p.S53fs

c.157_158fs

1 paper

NM_004304.5

p.S53N

c.158G>A

1 paper

NM_004304.5

p.K52_S53del1

c.155_157delTCT

1 paper

NM_004304.5

p.D57E

c.171C>A

1 paper

NM_004304.5

p.F58L

c.172T>C

1 paper

NM_004304.5

p.K52R

c.155A>G

1 paper

NM_004304.5

p.F58L

c.174C>G

1 paper

NM_004304.5

p.F58L

c.174C>A

1 paper

NM_004304.5

p.V59E

c.176T>A

2 papers

NM_004304.5

p.R51K

c.152G>A

1 paper

NM_004304.5

p.R51G

c.151A>G