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.A162T

c.484G>A

Surrounding Variants

1 paper

NM_004304.5

p.A162G

c.485C>G

1 paper

NM_004304.5

p.A161V

c.482C>T

16 papers

NM_004304.5

p.V163L

c.487G>T

16 papers

NM_004304.5

p.V163L

c.487G>C

1 paper

NM_004304.5

p.A161T

c.481G>A

1 paper

NM_004304.5

p.E160D

c.480G>T

2 papers

NM_004304.5

p.E160fs

c.478_479fs

2 papers

NM_004304.5

p.E160V

c.479A>T

1 paper

NM_004304.5

p.E160delFs

c.478delC

1 paper

NM_004304.5

p.E160fs

c.478_479fs

1 paper

NM_004304.5

p.G159fs

c.475_476fs

1 paper

NM_004304.5

p.G164E

c.491G>A