Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_021999.5
p.M1K
c.2T>A
1 paper
NM_021999.5
p.M1I
c.3G>A
1 paper
NM_021999.5
p.M1I
c.3G>T
1 paper
NM_021999.5
p.V2M
c.4G>A
1 paper
NM_021999.5
p.K3R
c.8A>G
1 paper
NM_021999.5
p.T5P
c.13A>C
1 paper
NM_021999.5
p.T5A
c.13A>G
1 paper
NM_021999.5
p.F6L
c.16T>C
1 paper
NM_021999.5
p.F6L
c.18C>A
2 papers
NM_021999.5
p.F6L
c.18C>G
1 paper
NM_021999.5
p.N7S
c.20A>G
1 paper
NM_021999.5
p.A9D
c.26C>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."