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.G1473insFs

c.4417dupG

Surrounding Variants

3 papers

NM_004304.5

p.H1475Q

c.4425C>G

3 papers

NM_004304.5

p.H1475Q

c.4425C>A

2 papers

NM_004304.5

p.V1476M

c.4426G>A

1 paper

NM_004304.5

p.G1473E

c.4418G>A

1 paper

NM_004304.5

p.V1476A

c.4427T>C

1 paper

NM_004304.5

p.G1473R

c.4417G>C

1 paper

NM_004304.5

p.G1473R

c.4417G>A

1 paper

NM_004304.5

p.E1472D

c.4416A>T

1 paper

NM_004304.5

p.E1472D

c.4416A>C

1 paper

NM_004304.5

p.V1471fs

c.4411_4412fs

6 papers

NM_004304.5

p.M1478T

c.4433T>C

1 paper

NM_004304.5

p.V1471M

c.4411G>A