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

8 papers

NM_004304.5

p.G1494R

c.4480G>C

Surrounding Variants

1 paper

NM_004304.5

p.G1494*

c.4480G>T

8 papers

NM_004304.5

p.G1494R

c.4480G>A

6 papers

NM_004304.5

p.G1494E

c.4481G>A

1 paper

NM_004304.5

p.S1495T

c.4483T>A

1 paper

NM_004304.5

p.R1496I

c.4487G>T

1 paper

NM_004304.5

p.K1491K

c.4473G>A

53 papers

NM_004304.5

p.K1491R

c.4472A>G

1 paper

NM_004304.5

p.N1497K

c.4491C>G

1 paper

NM_004304.5

p.N1497K

c.4491C>A

1 paper

NM_004304.5

p.H1490D

c.4468C>G

1 paper

NM_004304.5

p.K1498E

c.4492A>G

1 paper

NM_004304.5

p.K1498R

c.4493A>G