Varaico: Literature-Extracted Genetic Variants

Gene:APH1B
Variant:p.F217L

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
Selected Variant
8 papers
NM_031301.4
p.F217L
c.649T>C
Surrounding Variants
8 papers
NM_031301.4
p.F217L
c.651T>A
11 papers
NM_031301.4
p.F217L
c.651T>G
1 paper
NM_031301.4
p.L220P
c.659T>C
1 paper
NM_031301.4
p.L229_A230insFs
c.687_688insCC
2 papers
NM_031301.4
p.R255C
c.763C>T
1 paper
NM_031301.4
p.A201V
c.602C>T
8 papers
NM_031301.4
p.V199L
c.595G>C
8 papers
NM_031301.4
p.V199L
c.595G>T
1 paper
NM_031301.4
p.T195N
c.584C>A
1 paper
NM_031301.4
p.K185fs
c.553_554fs
2 papers
NM_031301.4
p.K185fs
c.553_554fs
3 papers
NM_031301.4
p.K185delFs
c.554delA
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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."