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

3 papers

NM_004304.5

p.A586V

c.1757C>T

Surrounding Variants

1 paper

NM_004304.5

p.A586T

c.1756G>A

2 papers

NM_004304.5

p.A585A

c.1755C>T

1 paper

NM_004304.5

p.Y587F

c.1760A>T

1 paper

NM_004304.5

p.A585S

c.1753G>T

13 papers

NM_004304.5

p.A585T

c.1753G>A

1 paper

NM_004304.5

p.E588K

c.1762G>A

1 paper

NM_004304.5

p.V584V

c.1752C>T

2 papers

NM_004304.5

p.H583fs

c.1747_1748fs

1 paper

NM_004304.5

p.W582G

c.1744T>G

1 paper

NM_004304.5

p.V581insFs

c.1741_1742ins4

1 paper

NM_004304.5

p.S591R

c.1773C>A

1 paper

NM_004304.5

p.M580I

c.1740G>T