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.T1151S

c.3451A>T

Surrounding Variants

64 papers

NM_004304.5

p.T1151M

c.3452C>T

10 papers

NM_004304.5

p.T1151R

c.3452C>G

12 papers

NM_004304.5

p.T1151K

c.3452C>A

6 papers

NM_004304.5

p.L1152V

c.3454C>G

1 paper

NM_004304.5

p.T1151ins0

c.3451_3453dupACG

101 papers

NM_004304.5

p.L1152R

c.3455T>G

18 papers

NM_004304.5

p.L1152P

c.3455T>C

2 papers

NM_004304.5

p.P1153S

c.3457C>T

1 paper

NM_004304.5

p.P1153R

c.3458C>G

1 paper

NM_004304.5

p.P1153H

c.3458C>A

1 paper

NM_004304.5

p.E1154Q

c.3460G>C

4 papers

NM_004304.5

p.E1154K

c.3460G>A