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.R395S

c.1183C>A

Surrounding Variants

1 paper

NM_004304.5

p.R395C

c.1183C>T

1 paper

NM_004304.5

p.R395G

c.1183C>G

1 paper

NM_004304.5

p.R395L

c.1184G>T

16 papers

NM_004304.5

p.R395H

c.1184G>A

1 paper

NM_004304.5

p.G394V

c.1181G>T

1 paper

NM_004304.5

p.G394W

c.1180G>T

1 paper

NM_004304.5

p.G394R

c.1180G>C

1 paper

NM_004304.5

p.G394R

c.1180G>A

1 paper

NM_004304.5

p.I393S

c.1178T>G

1 paper

NM_004304.5

p.D397Y

c.1189G>T

1 paper

NM_004304.5

p.D397N

c.1189G>A

2 papers

NM_004304.5

p.I393V

c.1177A>G