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

3 papers

NM_004304.5

p.E119D

c.357G>C

Surrounding Variants

3 papers

NM_004304.5

p.E119D

c.357G>T

2 papers

NM_004304.5

p.E119V

c.356A>T

1 paper

NM_004304.5

p.E119Q

c.355G>C

3 papers

NM_004304.5

p.R121W

c.361C>T

2 papers

NM_004304.5

p.A118V

c.353C>T

1 paper

NM_004304.5

p.A118S

c.352G>T

2 papers

NM_004304.5

p.R121Q

c.362G>A

1 paper

NM_004304.5

p.A118T

c.352G>A

7 papers

NM_004304.5

p.P117R

c.350C>G

1 paper

NM_004304.5

p.P117Q

c.350C>A

1 paper

NM_004304.5

p.T122S

c.364A>T

2 papers

NM_004304.5

p.T122M

c.365C>T