Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.R266H

LAMP2

488 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may ...

Pfam Domains

Lamp2-like_luminalaa 207–369UCSCLysosome-associated membrane glycoprotein 2-like, luminal domains
Lamp2_2ndaa 377–408UCSCLysosome-associated membrane glycoprotein 2, transmembrane segment

Gene Aliases

HGNC Name

lysosomal associated membrane protein 2

HGNC Alias Symbol

CD107b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002294.3
p.R266H
c.797G>A
Surrounding Variants
6 papers
NM_002294.3
p.R266insFs
c.796_797insC
1 paper
NM_002294.3
p.R266fs
c.796_797fs
1 paper
NM_002294.3
p.R266C
c.796C>T
4 papers
NM_002294.3
p.C265*
c.795C>A
1 paper
NM_002294.3
p.G263fs
c.787_788fs
2 papers
NM_002294.3
p.G263delFs
c.788delC
1 paper
NM_002294.3
p.T269A
c.805A>G
1 paper
NM_002294.3
p.G263S
c.787G>A
2 papers
NM_002294.3
p.A270fs
c.808_809fs
10 papers
NM_002294.3
p.A270insFs
c.808dupG
1 paper
NM_002294.3
p.T262A
c.784A>G
1 paper
NM_002294.3
p.S261A
c.781T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."