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.D1160G

c.3479A>G

Surrounding Variants

1 paper

NM_004304.5

p.D1160H

c.3478G>C

5 papers

NM_004304.5

p.E1161K

c.3481G>A

2 papers

NM_004304.5

p.Q1159L

c.3476A>T

2 papers

NM_004304.5

p.E1161A

c.3482A>C

1 paper

NM_004304.5

p.Q1159*

c.3475C>T

3 papers

NM_004304.5

p.E1161D

c.3483A>T

3 papers

NM_004304.5

p.E1161D

c.3483A>C

1 paper

NM_004304.5

p.E1158Q

c.3472G>C

1 paper

NM_004304.5

p.D1163N

c.3487G>A

1 paper

NM_004304.5

p.S1157T

c.3469T>A

1 paper

NM_004304.5

p.F1164V

c.3490T>G

1 paper

NM_004304.5

p.F1164L

c.3490T>C