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.V836M

c.2506G>A

Surrounding Variants

1 paper

NM_004304.5

p.V836L

c.2506G>T

1 paper

NM_004304.5

p.V836L

c.2506G>C

1 paper

NM_004304.5

p.P835P

c.2505G>C

2 papers

NM_004304.5

p.P835L

c.2504C>T

1 paper

NM_004304.5

p.P835Q

c.2504C>A

2 papers

NM_004304.5

p.V834L

c.2500G>T

2 papers

NM_004304.5

p.V834L

c.2500G>C

2 papers

NM_004304.5

p.L838V

c.2512C>G

1 paper

NM_004304.5

p.G833E

c.2498G>A

1 paper

NM_004304.5

p.G833*

c.2497G>T

1 paper

NM_004304.5

p.G833_V834insA

c.2497_2501ins3

1 paper

NM_004304.5

p.I839V

c.2515A>G