Varaico: Literature-Extracted Genetic Variants

Gene:PCED1B
Variant:p.E171K

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
3 papers
NM_138371.3
p.E171K
c.511G>A
Surrounding Variants
1 paper
NM_138371.3
p.G174G
c.522G>T
1 paper
NM_138371.3
p.Q184E
c.550C>G
1 paper
NM_138371.3
p.K185N
c.555G>C
1 paper
NM_138371.3
p.K185N
c.555G>T
1 paper
NM_138371.3
p.E192K
c.574G>A
1 paper
NM_138371.3
p.N142I
c.425A>T
1 paper
NM_138371.3
p.F218L
c.652T>C
1 paper
NM_138371.3
p.F218L
c.654C>A
1 paper
NM_138371.3
p.F218L
c.654C>G
1 paper
NM_138371.3
p.R219C
c.655C>T
2 papers
NM_138371.3
p.R83H
c.248G>A
1 paper
NM_138371.3
p.R83C
c.247C>T
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