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

2 papers

NM_004304.5

p.D1249N

c.3745G>A

Surrounding Variants

1 paper

NM_004304.5

p.R1248L

c.3743G>T

3 papers

NM_004304.5

p.R1248Q

c.3743G>A

3 papers

NM_004304.5

p.R1248*

c.3742C>T

1 paper

NM_004304.5

p.I1250V

c.3748A>G

28 papers

NM_004304.5

p.I1250T

c.3749T>C

1 paper

NM_004304.5

p.I1250M

c.3750T>G

1 paper

NM_004304.5

p.A1251T

c.3751G>A

1 paper

NM_004304.5

p.R1248Splc

c.3744-5C>A

3 papers

NM_004304.5

p.A1251D

c.3752C>A

2 papers

NM_004304.5

p.A1251A

c.3753T>A

1 paper

NM_004304.5

p.A1252T

c.3754G>A

3 papers

NM_004304.5

p.A1252V

c.3755C>T