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.L7P

c.20T>C

Surrounding Variants

1 paper

NM_004304.5

p.L7R

c.20T>G

2 papers

NM_004304.5

p.L7M

c.19C>A

1 paper

NM_004304.5

p.W8R

c.22T>C

1 paper

NM_004304.5

p.W8R

c.22T>A

1 paper

NM_004304.5

p.L6H

c.17T>A

1 paper

NM_004304.5

p.W8C

c.24G>T

1 paper

NM_004304.5

p.W8C

c.24G>C

1 paper

NM_004304.5

p.L6delins

c.16delinsT

1 paper

NM_004304.5

p.L9F

c.25C>T

1 paper

NM_004304.5

p.L9V

c.25C>G

2 papers

NM_004304.5

p.L9P

c.26T>C

1 paper

NM_004304.5

p.G5W

c.13G>T