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

4 papers

NM_004304.5

p.S76S

c.228C>T

Surrounding Variants

1 paper

NM_004304.5

p.S76P

c.226T>C

1 paper

NM_004304.5

p.S77S

c.231C>G

1 paper

NM_004304.5

p.P75Q

c.224C>A

1 paper

NM_004304.5

p.S78L

c.233C>T

1 paper

NM_004304.5

p.S78W

c.233C>G

1 paper

NM_004304.5

p.P74T

c.220C>A

1 paper

NM_004304.5

p.L73_P74insFs

c.219_220insAA

1 paper

NM_004304.5

p.L73insFs

c.218_219insAA

1 paper

NM_004304.5

p.L73Q

c.218T>A

1 paper

NM_004304.5

p.E79_L80insFs

c.237_238insG

3 papers

NM_004304.5

p.L80M

c.238C>A

1 paper

NM_004304.5

p.L73V

c.217C>G