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.R1275fs

c.3823_3824fs

Surrounding Variants

31 papers

NM_004304.5

p.R1275L

c.3824G>T

1 paper

NM_004304.5

p.R1275insFs

c.3823dupC

331 papers

NM_004304.5

p.R1275Q

c.3824G>A

1 paper

NM_004304.5

p.D1276N

c.3826G>A

1 paper

NM_004304.5

p.R1275delFs

c.3823delG

12 papers

NM_004304.5

p.R1275*

c.3823C>T

2 papers

NM_004304.5

p.R1275G

c.3823C>G

1 paper

NM_004304.5

p.D1276E

c.3828C>G

1 paper

NM_004304.5

p.D1276E

c.3828C>A

1 paper

NM_004304.5

p.A1274V

c.3821C>T

3 papers

NM_004304.5

p.A1274T

c.3820G>A

1 paper

NM_004304.5

p.Y1278D

c.3832T>G