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

5 papers

NM_004304.5

p.D1270G

c.3809A>G

Surrounding Variants

1 paper

NM_004304.5

p.D1270V

c.3809A>T

3 papers

NM_004304.5

p.D1270N

c.3808G>A

1 paper

NM_004304.5

p.D1270E

c.3810C>G

1 paper

NM_004304.5

p.D1270E

c.3810C>A

1 paper

NM_004304.5

p.F1271L

c.3811T>C

1 paper

NM_004304.5

p.G1269G

c.3807A>G

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.G1269*

c.3805G>T

3 papers

NM_004304.5

p.G1269R

c.3805G>C

3 papers

NM_004304.5

p.G1269R

c.3805G>A

1 paper

NM_004304.5

p.F1271L

c.3813C>G