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.N864T

c.2591A>C

Surrounding Variants

1 paper

NM_004304.5

p.N863S

c.2588A>G

1 paper

NM_004304.5

p.S866A

c.2596T>G

1 paper

NM_004304.5

p.E862E

c.2586G>A

1 paper

NM_004304.5

p.S866L

c.2597C>T

1 paper

NM_004304.5

p.S866*

c.2597C>A

2 papers

NM_004304.5

p.V867F

c.2599G>T

1 paper

NM_004304.5

p.L861L

c.2583G>A

2 papers

NM_004304.5

p.S866_V867delins

c.2598_2599delinsTT

1 paper

NM_004304.5

p.S865_S866del2

c.2593_2597del6

10 papers

NM_004304.5

p.L861R

c.2582T>G

102 papers

NM_004304.5

p.L861Q

c.2582T>A

1 paper

NM_004304.5

p.L868Q

c.2603T>A