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.P1543L

c.4628C>T

Surrounding Variants

1 paper

NM_004304.5

p.P1543delFs

c.4628delG

1 paper

NM_004304.5

p.P1543fs

c.4627_4628fs

9 papers

NM_004304.5

p.P1543S

c.4627C>T

1 paper

NM_004304.5

p.N1544D

c.4630A>G

1 paper

NM_004304.5

p.P1542fs

c.4624_4625fs

1 paper

NM_004304.5

p.P1542delFs

c.4625delG

1 paper

NM_004304.5

p.P1542Q

c.4625C>A

1 paper

NM_004304.5

p.P1542S

c.4624C>T

2 papers

NM_004304.5

p.N1544K

c.4632C>G

2 papers

NM_004304.5

p.N1544K

c.4632C>A

2 papers

NM_004304.5

p.V1545I

c.4633G>A

1 paper

NM_004304.5

p.V1541A

c.4622T>C