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.R28fs

c.82_83fs

Surrounding Variants

1 paper

NM_004304.5

p.A29S

c.85G>T

1 paper

NM_004304.5

p.A29P

c.85G>C

1 paper

NM_004304.5

p.A29T

c.85G>A

4 papers

NM_004304.5

p.A29V

c.86C>T

1 paper

NM_004304.5

p.R28S

c.82C>A

1 paper

NM_004304.5

p.G30A

c.89G>C

1 paper

NM_004304.5

p.Q27E

c.79C>G

1 paper

NM_004304.5

p.G30delFs

c.89delC

1 paper

NM_004304.5

p.S31P

c.91T>C

1 paper

NM_004304.5

p.T25_G26insFs

c.75_76ins5

1 paper

NM_004304.5

p.G26S

c.76G>A

1 paper

NM_004304.5

p.S31F

c.92C>T