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

88 papers

NM_004304.5

p.V1180L

c.3538G>C

Surrounding Variants

3 papers

NM_004304.5

p.V1180I

c.3538G>A

3 papers

NM_004304.5

p.R1181C

c.3541C>T

8 papers

NM_004304.5

p.R1181H

c.3542G>A

1 paper

NM_004304.5

p.N1178K

c.3534C>G

2 papers

NM_004304.5

p.N1178K

c.3534C>A

2 papers

NM_004304.5

p.N1178S

c.3533A>G

3 papers

NM_004304.5

p.N1178H

c.3532A>C

1 paper

NM_004304.5

p.C1182Y

c.3545G>A

1 paper

NM_004304.5

p.C1182*

c.3546C>A

1 paper

NM_004304.5

p.Q1177*

c.3529C>T

5 papers

NM_004304.5

p.I1183T

c.3548T>C

1 paper

NM_004304.5

p.I1183M

c.3549T>G