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.R184*

c.550C>T

Surrounding Variants

1 paper

NM_004304.5

p.G183V

c.548G>T

1 paper

NM_004304.5

p.G183A

c.548G>C

1 paper

NM_004304.5

p.E182Q

c.544G>C

1 paper

NM_004304.5

p.E182K

c.544G>A

1 paper

NM_004304.5

p.R186K

c.557G>A

1 paper

NM_004304.5

p.G181insFs

c.541_542insA

1 paper

NM_004304.5

p.I187V

c.559A>G

1 paper

NM_004304.5

p.I187N

c.560T>A

1 paper

NM_004304.5

p.R188insFs

c.562_563ins10

1 paper

NM_004304.5

p.R179L

c.536G>T

6 papers

NM_004304.5

p.R179H

c.536G>A

1 paper

NM_004304.5

p.L189L

c.565C>T