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.G1184R

c.3550G>A

Surrounding Variants

1 paper

NM_004304.5

p.G1184R

c.3550G>C

1 paper

NM_004304.5

p.I1183M

c.3549T>G

1 paper

NM_004304.5

p.G1184V

c.3551G>T

2 papers

NM_004304.5

p.G1184A

c.3551G>C

7 papers

NM_004304.5

p.G1184E

c.3551G>A

5 papers

NM_004304.5

p.I1183T

c.3548T>C

4 papers

NM_004304.5

p.V1185L

c.3553G>T

4 papers

NM_004304.5

p.V1185L

c.3553G>C

1 paper

NM_004304.5

p.V1185A

c.3554T>C

1 paper

NM_004304.5

p.C1182*

c.3546C>A

1 paper

NM_004304.5

p.C1182Y

c.3545G>A

1 paper

NM_004304.5

p.S1186G

c.3556A>G