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.Q1177*

c.3529C>T

Surrounding Variants

2 papers

NM_004304.5

p.H1176Y

c.3526C>T

3 papers

NM_004304.5

p.N1178H

c.3532A>C

2 papers

NM_004304.5

p.N1178S

c.3533A>G

1 paper

NM_004304.5

p.N1178K

c.3534C>G

2 papers

NM_004304.5

p.N1178K

c.3534C>A

3 papers

NM_004304.5

p.N1175S

c.3524A>G

1 paper

NM_004304.5

p.N1175D

c.3523A>G

505 papers

NM_004304.5

p.F1174L

c.3522C>G

508 papers

NM_004304.5

p.F1174L

c.3522C>A

148 papers

NM_004304.5

p.F1174C

c.3521T>G

32 papers

NM_004304.5

p.F1174S

c.3521T>C

108 papers

NM_004304.5

p.F1174V

c.3520T>G