Varaico: Literature-Extracted Genetic Variants

Gene:GPAA1
Variant:p.A198V

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
1 paper
NM_003801.4
p.A198V
c.593C>T
Surrounding Variants
1 paper
NM_003801.4
p.T192S
c.575C>G
1 paper
NM_003801.4
p.T192S
c.574A>T
1 paper
NM_003801.4
p.L190P
c.569T>C
1 paper
NM_003801.4
p.L189L
c.567T>C
1 paper
NM_003801.4
p.F182C
c.545T>G
10 papers
NM_003801.4
p.W176S
c.527G>C
3 papers
NM_003801.4
p.M207delFs
c.619delA
2 papers
NM_003801.4
p.M207fs
c.619_620fs
1 paper
NM_003801.4
p.Q213fs
c.637_638fs
1 paper
NM_003801.4
p.Q213delFs
c.639delG
1 paper
NM_003801.4
p.V223E
c.668T>A
1 paper
NM_003801.4
p.A165S
c.493G>T
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