Varaico: Literature-Extracted Genetic Variants

Gene:PCED1A
Variant:p.M421L

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.M421L
c.1261A>T
Surrounding Variants
1 paper
NM_022760.6
p.M421L
c.1261A>C
1 paper
NM_022760.6
p.R419W
c.1255C>T
1 paper
NM_022760.6
p.R428W
c.1282C>T
1 paper
NM_022760.6
p.R428Q
c.1283G>A
1 paper
NM_022760.6
p.R409H
c.1226G>A
1 paper
NM_022760.6
p.R405W
c.1213C>T
1 paper
NM_022760.6
p.R444W
c.1330C>T
1 paper
NM_022760.6
p.P354S
c.1060C>T
1 paper
NM_022760.6
p.F347insFs
c.1040dupT
1 paper
NM_022760.6
p.P327P
c.981G>A
1 paper
NM_022760.6
p.P323L
c.968C>T
1 paper
NM_022760.6
p.R299K
c.896G>A
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