Varaico: Literature-Extracted Genetic Variants

Gene:APH1B

APH1B

77 papers

RefSeq Summary

This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing ...

Pfam Domains

Aph-1aa 4–234UCSCAph-1 protein

Gene Aliases

HGNC Name

aph-1B gamma-secretase subunit

HGNC Alias Symbols

PSFL; APH-1B; DKFZp564D0372

Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
13 papers
NM_031301.4
p.T27I
c.80C>T
11 papers
NM_031301.4
p.F217L
c.651T>G
8 papers
NM_031301.4
p.V199L
c.595G>C
8 papers
NM_031301.4
p.V199L
c.595G>T
8 papers
NM_031301.4
p.F217L
c.649T>C
8 papers
NM_031301.4
p.F217L
c.651T>A
3 papers
NM_031301.4
p.H170R
c.509A>G
3 papers
NM_031301.4
p.K185delFs
c.554delA
2 papers
NM_031301.4
p.T27A
c.79A>G
2 papers
NM_031301.4
p.G38R
c.112G>A
2 papers
NM_031301.4
p.G38R
c.112G>C
2 papers
NM_031301.4
p.K185fs
c.553_554fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."