Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.S104P

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.S104P
c.310T>C
Surrounding Variants
1 paper
NM_021999.5
p.E102A
c.305A>C
1 paper
NM_021999.5
p.E102V
c.305A>T
1 paper
NM_021999.5
p.D106_L111del6
c.316_332del18
2 papers
NM_021999.5
p.L100V
c.298T>G
1 paper
NM_021999.5
p.P108P
c.324A>G
1 paper
NM_021999.5
p.A109S
c.325G>T
1 paper
NM_021999.5
p.A109D
c.326C>A
1 paper
NM_021999.5
p.V98I
c.292G>A
3 papers
NM_021999.5
p.D96A
c.287A>C
1 paper
NM_021999.5
p.Y93*
c.279C>G
1 paper
NM_021999.5
p.Y93H
c.277T>C
1 paper
NM_021999.5
p.E116D
c.348A>C
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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."