Varaico: Literature-Extracted Genetic Variants

Gene:GPAA1
Variant:p.Q260H

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.Q260H
c.780G>C
Surrounding Variants
1 paper
NM_003801.4
p.Q260H
c.780G>T
1 paper
NM_003801.4
p.P247fs
c.739_740fs
1 paper
NM_003801.4
p.P247delFs
c.739delC
1 paper
NM_003801.4
p.N243N
c.729C>T
1 paper
NM_003801.4
p.V237L
c.709G>C
1 paper
NM_003801.4
p.V237L
c.709G>T
1 paper
NM_003801.4
p.L235F
c.703C>T
1 paper
NM_003801.4
p.S234delFs
c.702delC
1 paper
NM_003801.4
p.S234fs
c.700_701fs
1 paper
NM_003801.4
p.V232fs
c.694_695fs
1 paper
NM_003801.4
p.V232insFs
c.694dupG
1 paper
NM_003801.4
p.V223E
c.668T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."