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.P43L

c.128C>T

Surrounding Variants

1 paper

NM_004304.5

p.P43S

c.127C>T

2 papers

NM_004304.5

p.P43T

c.127C>A

1 paper

NM_004304.5

p.L44F

c.130C>T

1 paper

NM_004304.5

p.P43insFs

c.129dupA

1 paper

NM_004304.5

p.E42Fs

c.125delinsTTFs

1 paper

NM_004304.5

p.Y46N

c.136T>A

1 paper

NM_004304.5

p.S45del1

c.133_134delGCT

1 paper

NM_004304.5

p.P40H

c.119C>A

1 paper

NM_004304.5

p.Y46S

c.137A>C

3 papers

NM_004304.5

p.P40S

c.118C>T

1 paper

NM_004304.5

p.P40A

c.118C>G

1 paper

NM_004304.5

p.P40T

c.118C>A