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.F856L

c.2568C>G

Surrounding Variants

1 paper

NM_004304.5

p.F856L

c.2568C>A

5 papers

NM_004304.5

p.F856S

c.2567T>C

1 paper

NM_004304.5

p.F856L

c.2566T>C

1 paper

NM_004304.5

p.K852_T855del4

c.2554_2564del12

1 paper

NM_004304.5

p.T855M

c.2564C>T

1 paper

NM_004304.5

p.T855A

c.2563A>G

1 paper

NM_004304.5

p.D854D

c.2562C>T

1 paper

NM_004304.5

p.D854E

c.2562C>G

1 paper

NM_004304.5

p.D854E

c.2562C>A

1 paper

NM_004304.5

p.E859K

c.2575G>A

1 paper

NM_004304.5

p.D854N

c.2560G>A

1 paper

NM_004304.5

p.E859A

c.2576A>C