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.S47L

c.140C>T

Surrounding Variants

1 paper

NM_004304.5

p.S47Fs

c.139delinsTTFs

1 paper

NM_004304.5

p.S47insFs

c.139_140insG

1 paper

NM_004304.5

p.S47S

c.141G>A

1 paper

NM_004304.5

p.R48C

c.142C>T

3 papers

NM_004304.5

p.R48H

c.143G>A

1 paper

NM_004304.5

p.Y46S

c.137A>C

1 paper

NM_004304.5

p.Y46N

c.136T>A

1 paper

NM_004304.5

p.S45del1

c.133_134delGCT

1 paper

NM_004304.5

p.R48_L49insFs

c.144_145insG

2 papers

NM_004304.5

p.L49insFs

c.145_146insG

1 paper

NM_004304.5

p.L49P

c.146T>C

1 paper

NM_004304.5

p.L49insFs

c.146_147insT