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.S426fs

c.1276_1277fs

Surrounding Variants

2 papers

NM_004304.5

p.E427*

c.1279G>T

1 paper

NM_004304.5

p.S426T

c.1277G>C

3 papers

NM_004304.5

p.S426C

c.1276A>T

1 paper

NM_004304.5

p.E427V

c.1280A>T

3 papers

NM_004304.5

p.C425W

c.1275C>G

1 paper

NM_004304.5

p.G428*

c.1282G>T

1 paper

NM_004304.5

p.C425G

c.1273T>G

1 paper

NM_004304.5

p.G428Splc

c.1282+1G>T

1 paper

NM_004304.5

p.E427del1

c.1279_1280delTTC

1 paper

NM_004304.5

p.N424S

c.1271A>G

1 paper

NM_004304.5

p.K423N

c.1269G>C

260 papers

NM_004304.5

p.K423K

c.1269G>A