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.I1268N

c.3803T>A

Surrounding Variants

1 paper

NM_004304.5

p.I1268F

c.3802A>T

2 papers

NM_004304.5

p.I1268V

c.3802A>G

1 paper

NM_004304.5

p.I1268L

c.3802A>C

1 paper

NM_004304.5

p.G1269*

c.3805G>T

3 papers

NM_004304.5

p.G1269R

c.3805G>C

3 papers

NM_004304.5

p.G1269R

c.3805G>A

259 papers

NM_004304.5

p.G1269A

c.3806G>C

4 papers

NM_004304.5

p.G1269E

c.3806G>A

1 paper

NM_004304.5

p.G1269G

c.3807A>G

3 papers

NM_004304.5

p.D1270N

c.3808G>A

1 paper

NM_004304.5

p.A1266V

c.3797C>T

1 paper

NM_004304.5

p.D1270V

c.3809A>T