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.L93M

c.277C>A

Surrounding Variants

1 paper

NM_004304.5

p.L93fs

c.277_278fs

1 paper

NM_004304.5

p.A92S

c.274G>T

1 paper

NM_004304.5

p.D94N

c.280G>A

3 papers

NM_004304.5

p.C95R

c.283T>C

1 paper

NM_004304.5

p.S90A

c.268T>G

2 papers

NM_004304.5

p.A96T

c.286G>A

1 paper

NM_004304.5

p.G89D

c.266G>A

1 paper

NM_004304.5

p.G89S

c.265G>A

1 paper

NM_004304.5

p.P97S

c.289C>T

2 papers

NM_004304.5

p.P97L

c.290C>T

2 papers

NM_004304.5

p.P97R

c.290C>G

1 paper

NM_004304.5

p.A87_R88insFs

c.261_262insC