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

4 papers

NM_004304.5

p.S565P

c.1693T>C

Surrounding Variants

2 papers

NM_004304.5

p.N563N

c.1689C>T

3 papers

NM_004304.5

p.L566F

c.1698G>T

3 papers

NM_004304.5

p.L566F

c.1698G>C

1 paper

NM_004304.5

p.G562E

c.1685G>A

1 paper

NM_004304.5

p.G562_N563ins10

c.1684_1688ins30

1 paper

NM_004304.5

p.G562R

c.1684G>A

1 paper

NM_004304.5

p.L568L

c.1702C>T

1 paper

NM_004304.5

p.L568L

c.1704A>G

5 papers

NM_004304.5

p.L560F

c.1680G>T

5 papers

NM_004304.5

p.L560F

c.1680G>C

1 paper

NM_004304.5

p.L560L

c.1680G>A

1 paper

NM_004304.5

p.E570K

c.1708G>A