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

3 papers

NM_004304.5

p.F174L

c.520T>C

Surrounding Variants

3 papers

NM_004304.5

p.F174L

c.522C>G

4 papers

NM_004304.5

p.F174L

c.522C>A

1 paper

NM_004304.5

p.L173M

c.517C>A

1 paper

NM_004304.5

p.S175insFs

c.523_524insG

1 paper

NM_004304.5

p.W176*

c.527G>A

1 paper

NM_004304.5

p.W176C

c.528G>T

1 paper

NM_004304.5

p.W176C

c.528G>C

2 papers

NM_004304.5

p.S171N

c.512G>A

2 papers

NM_004304.5

p.L170delFs

c.510delG

1 paper

NM_004304.5

p.W177*

c.530G>A

1 paper

NM_004304.5

p.L170P

c.509T>C

1 paper

NM_004304.5

p.W177*

c.531G>A