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.T573I

c.1718C>T

Surrounding Variants

6 papers

NM_004304.5

p.G574R

c.1720G>C

6 papers

NM_004304.5

p.G574R

c.1720G>A

1 paper

NM_004304.5

p.G574E

c.1721G>A

1 paper

NM_004304.5

p.N571K

c.1713C>G

1 paper

NM_004304.5

p.N571K

c.1713C>A

1 paper

NM_004304.5

p.E576*

c.1726G>T

1 paper

NM_004304.5

p.E576Q

c.1726G>C

1 paper

NM_004304.5

p.E576G

c.1727A>G

1 paper

NM_004304.5

p.E570K

c.1708G>A

1 paper

NM_004304.5

p.L568L

c.1704A>G

1 paper

NM_004304.5

p.L568L

c.1702C>T

3 papers

NM_004304.5

p.L566F

c.1698G>T