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.V155V

c.465C>T

Surrounding Variants

3 papers

NM_004304.5

p.G156R

c.466G>A

1 paper

NM_004304.5

p.V155L

c.463G>C

1 paper

NM_004304.5

p.G156E

c.467G>A

1 paper

NM_004304.5

p.C154delFs

c.461delC

1 paper

NM_004304.5

p.C154Y

c.461G>A

2 papers

NM_004304.5

p.P157S

c.469C>T

3 papers

NM_004304.5

p.P157L

c.470C>T

1 paper

NM_004304.5

p.P157H

c.470C>A

3 papers

NM_004304.5

p.P158S

c.472C>T

12 papers

NM_004304.5

p.P158T

c.472C>A

1 paper

NM_004304.5

p.V155_P157del3

c.463_470del9

2 papers

NM_004304.5

p.P158H

c.473C>A