Varaico: Literature-Extracted Genetic Variants

Gene:GPAA1
Variant:p.K388_A389Splc

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
4 papers
NM_003801.4
p.K388_A389Splc
c.1164+5C>T
Surrounding Variants
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.F357V
c.1069T>G
1 paper
NM_003801.4
p.Q355P
c.1064A>C
1 paper
NM_003801.4
p.R352H
c.1055G>A
1 paper
NM_003801.4
p.R352C
c.1054C>T
3 papers
NM_003801.4
p.L350R
c.1049T>G
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