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.P1139L

c.3416C>T

Surrounding Variants

1 paper

NM_004304.5

p.P1139S

c.3415C>T

1 paper

NM_004304.5

p.P1139T

c.3415C>A

2 papers

NM_004304.5

p.M1138I

c.3414G>T

2 papers

NM_004304.5

p.M1138I

c.3414G>C

2 papers

NM_004304.5

p.M1138I

c.3414G>A

3 papers

NM_004304.5

p.D1141N

c.3421G>A

1 paper

NM_004304.5

p.G1137E

c.3410G>A

1 paper

NM_004304.5

p.D1141G

c.3422A>G

5 papers

NM_004304.5

p.G1137R

c.3409G>C

5 papers

NM_004304.5

p.G1137R

c.3409G>A

3 papers

NM_004304.5

p.S1136S

c.3408C>T

1 paper

NM_004304.5

p.P1142S

c.3424C>T