Varaico: Literature-Extracted Genetic Variants

Gene:GPAA1
Variant:p.L523P

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.L523P
c.1568T>C
Surrounding Variants
3 papers
NM_003801.4
p.L520R
c.1559T>G
1 paper
NM_003801.4
p.T516I
c.1547C>T
2 papers
NM_003801.4
p.A514T
c.1540G>A
1 paper
NM_003801.4
p.L534ins3
c.1601_1602ins9
2 papers
NM_003801.4
p.R493fs
c.1477_1478fs
4 papers
NM_003801.4
p.R493delFs
c.1477_1478delAG
1 paper
NM_003801.4
p.R484Q
c.1451G>A
1 paper
NM_003801.4
p.R484L
c.1451G>T
1 paper
NM_003801.4
p.R484W
c.1450C>T
1 paper
NM_003801.4
p.A463T
c.1387G>A
1 paper
NM_003801.4
p.E462K
c.1384G>A
1 paper
NM_003801.4
p.V451I
c.1351G>A
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