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.M1V

c.1A>G

Surrounding Variants

2 papers

NM_004304.5

p.M1L

c.1A>T

2 papers

NM_004304.5

p.M1L

c.1A>C

2 papers

NM_004304.5

p.M1R

c.2T>G

1 paper

NM_004304.5

p.M1T

c.2T>C

1 paper

NM_004304.5

p.M1insFs

c.2_3insT

1 paper

NM_004304.5

p.M1_G2insFs

c.3_4insA

1 paper

NM_004304.5

p.G2R

c.4G>A

1 paper

NM_004304.5

p.G2A

c.5G>C

1 paper

NM_004304.5

p.G2E

c.5G>A

1 paper

NM_004304.5

p.M1Fs

c.2delinsTGFs

1 paper

NM_004304.5

p.A3T

c.7G>A

1 paper

NM_004304.5

p.A3fs

c.7_8fs