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.D418H

c.1252G>C

Surrounding Variants

1 paper

NM_004304.5

p.F420I

c.1258T>A

1 paper

NM_004304.5

p.F420C

c.1259T>G

1 paper

NM_004304.5

p.A421S

c.1261G>T

1 paper

NM_004304.5

p.L414V

c.1240T>G

1 paper

NM_004304.5

p.S413I

c.1238G>T

3 papers

NM_004304.5

p.S413N

c.1238G>A

1 paper

NM_004304.5

p.S413G

c.1237A>G

2 papers

NM_004304.5

p.K423R

c.1268A>G

1 paper

NM_004304.5

p.K423N

c.1269G>C

260 papers

NM_004304.5

p.K423K

c.1269G>A

3 papers

NM_004304.5

p.R412H

c.1235G>A

6 papers

NM_004304.5

p.R412C

c.1234C>T