Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B

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
1–12 of 164 variants
9 papers
NM_021999.5
p.*267R
c.799T>A
7 papers
NM_021999.5
p.E25A
c.74A>C
6 papers
NM_021999.5
p.E261A
c.782A>C
5 papers
NM_021999.5
p.S266insFs
c.796_797ins10
5 papers
NM_021999.5
p.*267S
c.800G>C
5 papers
NM_021999.5
p.*267L
c.800G>T
4 papers
NM_021999.5
p.I251V
c.751A>G
4 papers
NM_021999.5
p.L263_S266insFs
c.787_796dup10
3 papers
NM_021999.5
p.D96A
c.287A>C
2 papers
NM_021999.5
p.M1T
c.2T>C
2 papers
NM_021999.5
p.F6L
c.18C>G
2 papers
NM_021999.5
p.K17R
c.50A>G
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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."