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.H1228Y

c.3682C>T

Surrounding Variants

2 papers

NM_004304.5

p.H1228Q

c.3684C>G

2 papers

NM_004304.5

p.H1228Q

c.3684C>A

2 papers

NM_004304.5

p.V1229M

c.3685G>A

2 papers

NM_004304.5

p.L1226F

c.3676C>T

1 paper

NM_004304.5

p.D1225E

c.3675C>G

2 papers

NM_004304.5

p.D1225E

c.3675C>A

3 papers

NM_004304.5

p.D1225N

c.3673G>A

9 papers

NM_004304.5

p.R1231W

c.3691C>T

1 paper

NM_004304.5

p.R1231L

c.3692G>T

21 papers

NM_004304.5

p.R1231Q

c.3692G>A

1 paper

NM_004304.5

p.D1232N

c.3694G>A

1 paper

NM_004304.5

p.L1224L

c.3670C>T