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.S591R

c.1773C>A

Surrounding Variants

2 papers

NM_004304.5

p.W593C

c.1779G>T

2 papers

NM_004304.5

p.W593C

c.1779G>C

1 paper

NM_004304.5

p.Q594R

c.1781A>G

1 paper

NM_004304.5

p.E588K

c.1762G>A

1 paper

NM_004304.5

p.Y587F

c.1760A>T

3 papers

NM_004304.5

p.M596T

c.1787T>C

1 paper

NM_004304.5

p.V597L

c.1789G>T

1 paper

NM_004304.5

p.V597L

c.1789G>C

3 papers

NM_004304.5

p.A586V

c.1757C>T

4 papers

NM_004304.5

p.V597A

c.1790T>C

1 paper

NM_004304.5

p.A586T

c.1756G>A

2 papers

NM_004304.5

p.A585A

c.1755C>T