Varaico: Literature-Extracted Genetic Variants

Gene:GPAA1
Variant:p.A54delins

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
5 papers
NM_003801.4
p.A54delins
c.160_161delinsAA
Surrounding Variants
1 paper
NM_003801.4
p.A54Fs
c.160_161delinsAACFs
4 papers
NM_003801.4
p.M55T
c.164T>C
7 papers
NM_003801.4
p.S51L
c.152C>T
4 papers
NM_003801.4
p.M50K
c.149T>A
1 paper
NM_003801.4
p.T48S
c.143C>G
1 paper
NM_003801.4
p.T48S
c.142A>T
1 paper
NM_003801.4
p.A34P
c.100G>C
1 paper
NM_003801.4
p.A74S
c.220G>T
1 paper
NM_003801.4
p.A34delFs
c.100delG
1 paper
NM_003801.4
p.A31delFs
c.93delG
1 paper
NM_003801.4
p.S84*
c.251C>A
1 paper
NM_003801.4
p.W91delFs
c.273delG
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