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.R1209R

c.3627A>G

Surrounding Variants

1 paper

NM_004304.5

p.R1209R

c.3627A>T

2 papers

NM_004304.5

p.R1209delFs

c.3626delC

1 paper

NM_004304.5

p.E1210*

c.3628G>T

1 paper

NM_004304.5

p.R1209P

c.3626G>C

58 papers

NM_004304.5

p.E1210K

c.3628G>A

6 papers

NM_004304.5

p.R1209Q

c.3626G>A

5 papers

NM_004304.5

p.R1209*

c.3625C>T

2 papers

NM_004304.5

p.R1209fs

c.3625_3626fs

1 paper

NM_004304.5

p.T1211P

c.3631A>C

1 paper

NM_004304.5

p.T1211I

c.3632C>T

3 papers

NM_004304.5

p.T1211T

c.3633C>A

2 papers

NM_004304.5

p.R1212C

c.3634C>T