Varaico: Literature-Extracted Genetic Variants

Gene:GPAA1
Variant:p.L290P

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
Selected Variant
8 papers
NM_003801.4
p.L290P
c.869T>C
Surrounding Variants
8 papers
NM_003801.4
p.L291P
c.872T>C
1 paper
NM_003801.4
p.Q288R
c.863A>G
1 paper
NM_003801.4
p.W277*
c.831G>A
1 paper
NM_003801.4
p.W277*
c.830G>A
1 paper
NM_003801.4
p.E275Q
c.823G>C
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.G307fs
c.919_920fs
1 paper
NM_003801.4
p.Y312H
c.934T>C
4 papers
NM_003801.4
p.A316V
c.947C>T
1 paper
NM_003801.4
p.G321S
c.961G>A
2 papers
NM_003801.4
p.N323S
c.968A>G
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