Varaico: Literature-Extracted Genetic Variants

Gene:PCED1A
Variant:p.A63G

PCED1A

25 papers

RefSeq Summary

The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein...

Gene Aliases

HGNC Name

PC-esterase domain containing 1A

HGNC Previous Symbols

C20orf81; FAM113A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022760.6
p.A63G
c.188C>G
Surrounding Variants
1 paper
NM_022760.6
p.K68M
c.203A>T
1 paper
NM_022760.6
p.R189C
c.565C>T
1 paper
NM_022760.6
p.S7N
c.20G>A
1 paper
NM_022760.6
p.L202fs
c.604_605fs
1 paper
NM_022760.6
p.L202delFs
c.605delA
1 paper
NM_022760.6
p.A203T
c.607G>A
1 paper
NM_022760.6
p.V228A
c.683T>C
1 paper
NM_022760.6
p.H232N
c.694C>A
1 paper
NM_022760.6
p.R242H
c.725G>A
1 paper
NM_022760.6
p.L262fs
c.784_785fs
1 paper
NM_022760.6
p.V271M
c.811G>A
1 paper
NM_022760.6
p.D281Splc
c.842-1G>C
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