Varaico: Literature-Extracted Genetic Variants

Gene:APH1B
Variant:p.M1I

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
1 paper
NM_031301.4
p.M1I
c.3G>T
Surrounding Variants
1 paper
NM_031301.4
p.M1V
c.1A>G
1 paper
NM_031301.4
p.A4T
c.10G>A
1 paper
NM_031301.4
p.I12N
c.35T>A
1 paper
NM_031301.4
p.V22_F23insFs
c.66_67insG
2 papers
NM_031301.4
p.T27A
c.79A>G
13 papers
NM_031301.4
p.T27I
c.80C>T
1 paper
NM_031301.4
p.E28_P29insFs
c.84_85insT
2 papers
NM_031301.4
p.G38R
c.112G>A
2 papers
NM_031301.4
p.G38R
c.112G>C
1 paper
NM_031301.4
p.V44M
c.130G>A
1 paper
NM_031301.4
p.P66_T67insG
c.196_200ins3
1 paper
NM_031301.4
p.L71V
c.211C>G
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