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

2 papers

NM_004304.5

p.V1265L

c.3793G>C

Surrounding Variants

2 papers

NM_004304.5

p.V1265L

c.3793G>T

2 papers

NM_004304.5

p.V1265A

c.3794T>C

1 paper

NM_004304.5

p.V1265V

c.3795G>T

2 papers

NM_004304.5

p.R1264K

c.3791G>A

1 paper

NM_004304.5

p.A1266T

c.3796G>A

1 paper

NM_004304.5

p.A1266V

c.3797C>T

1 paper

NM_004304.5

p.G1263V

c.3788G>T

1 paper

NM_004304.5

p.G1263E

c.3788G>A

2 papers

NM_004304.5

p.G1263R

c.3787G>C

2 papers

NM_004304.5

p.G1263R

c.3787G>A

1 paper

NM_004304.5

p.P1262S

c.3784C>T

1 paper

NM_004304.5

p.I1268F

c.3802A>T