Varaico: Literature-Extracted Genetic Variants

Gene:GPAA1
Variant:p.A389P

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
7 papers
NM_003801.4
p.A389P
c.1165G>C
Surrounding Variants
1 paper
NM_003801.4
p.K388_A389Splc
c.1165-1C>T
3 papers
NM_003801.4
p.G411_S413delFs
c.1233_1239del7
2 papers
NM_003801.4
p.P412fs
c.1234_1235fs
4 papers
NM_003801.4
p.K388_A389Splc
c.1164+5C>T
1 paper
NM_003801.4
p.F380L
c.1140C>A
1 paper
NM_003801.4
p.L381_K388ins2
c.1141_1164dup24
1 paper
NM_003801.4
p.F380L
c.1140C>G
1 paper
NM_003801.4
p.F380L
c.1138T>C
1 paper
NM_003801.4
p.P376H
c.1127C>A
1 paper
NM_003801.4
p.I371I
c.1113C>T
2 papers
NM_003801.4
p.S370F
c.1109C>T
1 paper
NM_003801.4
p.S426L
c.1277C>T
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