Varaico: Literature-Extracted Genetic Variants

Gene:PCED1B
Variant:p.R300H

PCED1B

33 papers

RefSeq Summary

This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alter...

Gene Aliases

HGNC Name

PC-esterase domain containing 1B

HGNC Previous Symbol

FAM113B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_138371.3
p.R300H
c.899G>A
Surrounding Variants
1 paper
NM_138371.3
p.P314L
c.941C>T
1 paper
NM_138371.3
p.K270insFs
c.810dupA
1 paper
NM_138371.3
p.F333F
c.999C>T
1 paper
NM_138371.3
p.A340T
c.1018G>A
2 papers
NM_138371.3
p.S343F
c.1028C>T
1 paper
NM_138371.3
p.Q352K
c.1054C>A
1 paper
NM_138371.3
p.V369A
c.1106T>C
1 paper
NM_138371.3
p.M374I
c.1122G>A
1 paper
NM_138371.3
p.M374I
c.1122G>C
1 paper
NM_138371.3
p.M374I
c.1122G>T
1 paper
NM_138371.3
p.R219C
c.655C>T
1 paper
NM_138371.3
p.F218L
c.654C>A
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