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

3 papers

NM_004304.5

p.R1279Splc

c.3836+3G>T

Surrounding Variants

1 paper

NM_004304.5

p.D1276_R1279del0

c.3828_3836del9

1 paper

NM_004304.5

p.R1279M

c.3836G>T

1 paper

NM_004304.5

p.R1279K

c.3836G>A

1 paper

NM_004304.5

p.Y1278F

c.3833A>T

40 papers

NM_004304.5

p.Y1278S

c.3833A>C

1 paper

NM_004304.5

p.Y1278D

c.3832T>G

1 paper

NM_004304.5

p.Y1278H

c.3832T>C

1 paper

NM_004304.5

p.Y1278N

c.3832T>A

1 paper

NM_004304.5

p.D1276E

c.3828C>G

1 paper

NM_004304.5

p.D1276E

c.3828C>A

1 paper

NM_004304.5

p.D1276N

c.3826G>A

1 paper

NM_004304.5

p.R1275fs

c.3823_3824fs