Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.R252R

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.R252R
c.756G>A
Surrounding Variants
1 paper
NM_021999.5
p.R252Q
c.755G>A
1 paper
NM_021999.5
p.H253R
c.758A>G
1 paper
NM_021999.5
p.F254I
c.760T>A
1 paper
NM_021999.5
p.F254L
c.760T>C
4 papers
NM_021999.5
p.I251V
c.751A>G
1 paper
NM_021999.5
p.F254L
c.762T>A
1 paper
NM_021999.5
p.F254L
c.762T>G
2 papers
NM_021999.5
p.A250T
c.748G>A
1 paper
NM_021999.5
p.A250S
c.748G>T
1 paper
NM_021999.5
p.F249L
c.747C>A
1 paper
NM_021999.5
p.F249L
c.747C>G
1 paper
NM_021999.5
p.F249L
c.745T>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."