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.R100M

c.299G>T

Surrounding Variants

1 paper

NM_004304.5

p.R100K

c.299G>A

1 paper

NM_004304.5

p.R100G

c.298A>G

1 paper

NM_004304.5

p.L102P

c.305T>C

2 papers

NM_004304.5

p.G103V

c.308G>T

2 papers

NM_004304.5

p.G103E

c.308G>A

2 papers

NM_004304.5

p.L101_G103delFs

c.301_307del7

2 papers

NM_004304.5

p.P97L

c.290C>T

2 papers

NM_004304.5

p.P97R

c.290C>G

2 papers

NM_004304.5

p.G103G

c.309G>A

1 paper

NM_004304.5

p.P97S

c.289C>T

1 paper

NM_004304.5

p.P104S

c.310C>T

1 paper

NM_004304.5

p.P104_A105insC

c.310_314ins3