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.S15insFs

c.44_45insG

Surrounding Variants

1 paper

NM_004304.5

p.S15F

c.44C>T

1 paper

NM_004304.5

p.S15Y

c.44C>A

1 paper

NM_004304.5

p.T16A

c.46A>G

2 papers

NM_004304.5

p.L14H

c.41T>A

1 paper

NM_004304.5

p.T16M

c.47C>T

1 paper

NM_004304.5

p.T16K

c.47C>A

1 paper

NM_004304.5

p.L13fs

c.37_38fs

2 papers

NM_004304.5

p.A17T

c.49G>A

1 paper

NM_004304.5

p.L9_L12del4

c.25_35del12

2 papers

NM_004304.5

p.L13delFs

c.37delG

1 paper

NM_004304.5

p.L13M

c.37C>A

1 paper

NM_004304.5

p.L12_L13insFs

c.36_37insC