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.A33T

c.97G>A

Surrounding Variants

1 paper

NM_004304.5

p.A33P

c.97G>C

1 paper

NM_004304.5

p.A33V

c.98C>T

1 paper

NM_004304.5

p.A33D

c.98C>A

2 papers

NM_004304.5

p.P32P

c.96A>T

1 paper

NM_004304.5

p.P32L

c.95C>T

2 papers

NM_004304.5

p.P32A

c.94C>G

1 paper

NM_004304.5

p.S31F

c.92C>T

1 paper

NM_004304.5

p.S31P

c.91T>C

2 papers

NM_004304.5

p.G35W

c.103G>T

1 paper

NM_004304.5

p.G35insFs

c.104_105insC

2 papers

NM_004304.5

p.G35E

c.104G>A

1 paper

NM_004304.5

p.G30delFs

c.89delC