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.G130S

c.388G>A

Surrounding Variants

1 paper

NM_004304.5

p.G130D

c.389G>A

9 papers

NM_004304.5

p.G129V

c.386G>T

1 paper

NM_004304.5

p.G129D

c.386G>A

1 paper

NM_004304.5

p.G129S

c.385G>A

3 papers

NM_004304.5

p.S131F

c.392C>T

2 papers

NM_004304.5

p.V132L

c.394G>T

2 papers

NM_004304.5

p.V132L

c.394G>C

2 papers

NM_004304.5

p.R133C

c.397C>T

1 paper

NM_004304.5

p.L127V

c.379C>G

2 papers

NM_004304.5

p.R133L

c.398G>T

1 paper

NM_004304.5

p.R133H

c.398G>A

1 paper

NM_004304.5

p.S124_R125delFs

c.372_375del4