Varaico: Literature-Extracted Genetic Variants

Gene:GPAA1

GPAA1

87 papers

RefSeq Summary

Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably func...

Pfam Domains

Gaa1aa 125–615UCSCGaa1-like, GPI transamidase component

Gene Aliases

HGNC Name

glycosylphosphatidylinositol anchor attachment 1

HGNC Alias Symbols

GAA1; hGAA1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 108 variants
10 papers
NM_003801.4
p.W176S
c.527G>C
8 papers
NM_003801.4
p.L290P
c.869T>C
8 papers
NM_003801.4
p.L291P
c.872T>C
7 papers
NM_003801.4
p.S51L
c.152C>T
7 papers
NM_003801.4
p.A389P
c.1165G>C
5 papers
NM_003801.4
p.A54delins
c.160_161delinsAA
5 papers
NM_003801.4
p.H306R
c.917A>G
5 papers
NM_003801.4
p.G307delFs
c.920delG
4 papers
NM_003801.4
p.M50K
c.149T>A
4 papers
NM_003801.4
p.M55T
c.164T>C
4 papers
NM_003801.4
p.G307fs
c.919_920fs
4 papers
NM_003801.4
p.A316V
c.947C>T
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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."