Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.E261A

ITM2B

212 papers

RefSeq Summary

Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmem...

Pfam Domains

BRICHOSaa 139–230UCSCBRICHOS domain

Gene Aliases

HGNC Name

integral membrane protein 2B

HGNC Alias Symbols

E25B; E3-16; BRICD2B; BRI2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_021999.5
p.E261A
c.782A>C
Surrounding Variants
4 papers
NM_021999.5
p.L263_S266insFs
c.787_796dup10
1 paper
NM_021999.5
p.V260G
c.779T>G
1 paper
NM_021999.5
p.V260M
c.778G>A
1 paper
NM_021999.5
p.L263V
c.787T>G
1 paper
NM_021999.5
p.A259V
c.776C>T
1 paper
NM_021999.5
p.L263S
c.788T>C
1 paper
NM_021999.5
p.I264V
c.790A>G
1 paper
NM_021999.5
p.K257E
c.769A>G
5 papers
NM_021999.5
p.S266insFs
c.796_797ins10
1 paper
NM_021999.5
p.N256K
c.768C>A
1 paper
NM_021999.5
p.N256K
c.768C>G
1 paper
NM_021999.5
p.S266fs
c.796_797fs
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."