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.Q1238fs

c.3712_3713fs

Surrounding Variants

1 paper

NM_004304.5

p.Q1238R

c.3713A>G

1 paper

NM_004304.5

p.C1237Y

c.3710G>A

4 papers

NM_004304.5

p.Y1239H

c.3715T>C

1 paper

NM_004304.5

p.Y1239F

c.3716A>T

1 paper

NM_004304.5

p.Q1238_Y1239delFs

c.3712_3715del4

9 papers

NM_004304.5

p.L1240V

c.3718T>G

3 papers

NM_004304.5

p.C1235R

c.3703T>C

2 papers

NM_004304.5

p.E1241K

c.3721G>A

1 paper

NM_004304.5

p.L1240_E1241delins

c.3720_3721delinsAA

1 paper

NM_004304.5

p.E1241G

c.3722A>G

1 paper

NM_004304.5

p.A1234V

c.3701C>T

18 papers

NM_004304.5

p.A1234T

c.3700G>A