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.F1127S

c.3380T>C

Surrounding Variants

1 paper

NM_004304.5

p.G1128R

c.3382G>C

1 paper

NM_004304.5

p.G1128R

c.3382G>A

4 papers

NM_004304.5

p.G1128V

c.3383G>T

56 papers

NM_004304.5

p.G1128A

c.3383G>C

2 papers

NM_004304.5

p.A1126T

c.3376G>A

15 papers

NM_004304.5

p.G1125G

c.3375C>A

1 paper

NM_004304.5

p.G1125V

c.3374G>T

8 papers

NM_004304.5

p.E1129V

c.3386A>T

3 papers

NM_004304.5

p.E1129G

c.3386A>G

1 paper

NM_004304.5

p.E1129D

c.3387G>T

1 paper

NM_004304.5

p.G1125_A1126ins4

c.3373_3377ins12

1 paper

NM_004304.5

p.E1129D

c.3387G>C