Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.K17R

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
2 papers
NM_021999.5
p.K17R
c.50A>G
Surrounding Variants
1 paper
NM_021999.5
p.K17K
c.51G>A
2 papers
NM_021999.5
p.D18G
c.53A>G
1 paper
NM_021999.5
p.D18V
c.53A>T
1 paper
NM_021999.5
p.A15T
c.43G>A
1 paper
NM_021999.5
p.E14D
c.42G>C
1 paper
NM_021999.5
p.E14D
c.42G>T
1 paper
NM_021999.5
p.P20L
c.59C>T
1 paper
NM_021999.5
p.K21E
c.61A>G
1 paper
NM_021999.5
p.K13M
c.38A>T
2 papers
NM_021999.5
p.E25K
c.73G>A
7 papers
NM_021999.5
p.E25A
c.74A>C
1 paper
NM_021999.5
p.E25V
c.74A>T
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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."