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

12 papers

NM_004304.5

p.P158T

c.472C>A

Surrounding Variants

3 papers

NM_004304.5

p.P158S

c.472C>T

1 paper

NM_004304.5

p.V155_P157del3

c.463_470del9

2 papers

NM_004304.5

p.P158H

c.473C>A

3 papers

NM_004304.5

p.P157L

c.470C>T

1 paper

NM_004304.5

p.P158P

c.474C>T

2 papers

NM_004304.5

p.P158fs

c.472_473fs

1 paper

NM_004304.5

p.P157H

c.470C>A

2 papers

NM_004304.5

p.G159W

c.475G>T

4 papers

NM_004304.5

p.G159R

c.475G>C

4 papers

NM_004304.5

p.G159R

c.475G>A

4 papers

NM_004304.5

p.P158delFs

c.474delG

2 papers

NM_004304.5

p.P157S

c.469C>T