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.R209H

c.626G>A

Surrounding Variants

2 papers

NM_004304.5

p.R209C

c.625C>T

1 paper

NM_004304.5

p.R209insFs

c.625_626insTG

1 paper

NM_004304.5

p.R209fs

c.625_626fs

1 paper

NM_004304.5

p.A210P

c.628G>C

2 papers

NM_004304.5

p.I208T

c.623T>C

1 paper

NM_004304.5

p.A210V

c.629C>T

1 paper

NM_004304.5

p.S211F

c.632C>T

2 papers

NM_004304.5

p.A207T

c.619G>A

1 paper

NM_004304.5

p.Q212*

c.634C>T

1 paper

NM_004304.5

p.Q212E

c.634C>G

2 papers

NM_004304.5

p.A206V

c.617C>T

1 paper

NM_004304.5

p.A206T

c.616G>A