Varaico: Literature-Extracted Genetic Variants

Gene:GPAA1
Variant:p.G438A

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.G438A
c.1313G>C
Surrounding Variants
1 paper
NM_003801.4
p.L444P
c.1331T>C
1 paper
NM_003801.4
p.P430S
c.1288C>T
1 paper
NM_003801.4
p.S426L
c.1277C>T
1 paper
NM_003801.4
p.V451I
c.1351G>A
1 paper
NM_003801.4
p.E462K
c.1384G>A
1 paper
NM_003801.4
p.A463T
c.1387G>A
1 paper
NM_003801.4
p.R484W
c.1450C>T
1 paper
NM_003801.4
p.R484Q
c.1451G>A
1 paper
NM_003801.4
p.R484L
c.1451G>T
2 papers
NM_003801.4
p.P412fs
c.1234_1235fs
3 papers
NM_003801.4
p.G411_S413delFs
c.1233_1239del7
4 papers
NM_003801.4
p.R493delFs
c.1477_1478delAG
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