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.S109delins

c.326_327delinsTT

Surrounding Variants

2 papers

NM_004304.5

p.S109F

c.326C>T

2 papers

NM_004304.5

p.W110*

c.329G>A

1 paper

NM_004304.5

p.W110C

c.330G>T

1 paper

NM_004304.5

p.W110*

c.330G>A

1 paper

NM_004304.5

p.V108_W110del0

c.324_329del6

1 paper

NM_004304.5

p.V108D

c.323T>A

1 paper

NM_004304.5

p.T111A

c.331A>G

1 paper

NM_004304.5

p.L98_P106del9

c.292_317del27

1 paper

NM_004304.5

p.A112V

c.335C>T

1 paper

NM_004304.5

p.P106delFs

c.317delG

2 papers

NM_004304.5

p.G113S

c.337G>A

2 papers

NM_004304.5

p.P106L

c.317C>T