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

2 papers

NM_004304.5

p.A842A

c.2526C>T

Surrounding Variants

6 papers

NM_004304.5

p.G843R

c.2527G>C

5 papers

NM_004304.5

p.G843R

c.2527G>A

1 paper

NM_004304.5

p.A841_G843del3

c.2521_2528del9

1 paper

NM_004304.5

p.G845S

c.2533G>A

18 papers

NM_004304.5

p.G845G

c.2535T>C

1 paper

NM_004304.5

p.I839T

c.2516T>C

1 paper

NM_004304.5

p.G846C

c.2536G>T

1 paper

NM_004304.5

p.G846V

c.2537G>T

1 paper

NM_004304.5

p.G846D

c.2537G>A

1 paper

NM_004304.5

p.I839V

c.2515A>G

2 papers

NM_004304.5

p.L838V

c.2512C>G

1 paper

NM_004304.5

p.A848T

c.2542G>A