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.V402M

c.1204G>A

Surrounding Variants

2 papers

NM_004304.5

p.R401L

c.1202G>T

9 papers

NM_004304.5

p.R401Q

c.1202G>A

2 papers

NM_004304.5

p.A403T

c.1207G>A

14 papers

NM_004304.5

p.R401*

c.1201C>T

1 paper

NM_004304.5

p.R401G

c.1201C>G

1 paper

NM_004304.5

p.A403delFs

c.1209delG

1 paper

NM_004304.5

p.P399delFs

c.1195delG

1 paper

NM_004304.5

p.L404L

c.1212G>A

1 paper

NM_004304.5

p.E405*

c.1213G>T

2 papers

NM_004304.5

p.E405K

c.1213G>A

1 paper

NM_004304.5

p.N398K

c.1194C>G

1 paper

NM_004304.5

p.N398K

c.1194C>A