Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.L263V

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
1 paper
NM_021999.5
p.L263V
c.787T>G
Surrounding Variants
1 paper
NM_021999.5
p.L263S
c.788T>C
4 papers
NM_021999.5
p.L263_S266insFs
c.787_796dup10
1 paper
NM_021999.5
p.I264V
c.790A>G
6 papers
NM_021999.5
p.E261A
c.782A>C
1 paper
NM_021999.5
p.V260G
c.779T>G
5 papers
NM_021999.5
p.S266insFs
c.796_797ins10
1 paper
NM_021999.5
p.V260M
c.778G>A
1 paper
NM_021999.5
p.S266fs
c.796_797fs
1 paper
NM_021999.5
p.S266fs
c.796_797fs
1 paper
NM_021999.5
p.A259V
c.776C>T
1 paper
NM_021999.5
p.S266S
c.798T>A
9 papers
NM_021999.5
p.*267R
c.799T>A
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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."