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.G869E

c.2606G>A

Surrounding Variants

1 paper

NM_004304.5

p.G869R

c.2605G>C

1 paper

NM_004304.5

p.G869G

c.2607G>A

1 paper

NM_004304.5

p.G869R

c.2605G>A

1 paper

NM_004304.5

p.L868Q

c.2603T>A

2 papers

NM_004304.5

p.V867F

c.2599G>T

2 papers

NM_004304.5

p.S866_V867delins

c.2598_2599delinsTT

1 paper

NM_004304.5

p.S865_S866del2

c.2593_2597del6

2 papers

NM_004304.5

p.N871N

c.2613C>T

3 papers

NM_004304.5

p.N871K

c.2613C>G

3 papers

NM_004304.5

p.N871K

c.2613C>A

4 papers

NM_004304.5

p.G872S

c.2614G>A

1 paper

NM_004304.5

p.S866L

c.2597C>T