Varaico: Literature-Extracted Genetic Variants

Gene:PCED1B
Variant:p.K39E

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
1 paper
NM_138371.3
p.K39E
c.115A>G
Surrounding Variants
1 paper
NM_138371.3
p.G46E
c.137G>A
1 paper
NM_138371.3
p.R51fs
c.151_152fs
1 paper
NM_138371.3
p.E53delFs
c.157delG
1 paper
NM_138371.3
p.E53fs
c.157_158fs
1 paper
NM_138371.3
p.E57K
c.169G>A
1 paper
NM_138371.3
p.R67W
c.199C>T
1 paper
NM_138371.3
p.R5Q
c.14G>A
1 paper
NM_138371.3
p.I2M
c.6C>G
1 paper
NM_138371.3
p.R83C
c.247C>T
2 papers
NM_138371.3
p.R83H
c.248G>A
1 paper
NM_138371.3
p.N142I
c.425A>T
3 papers
NM_138371.3
p.E171K
c.511G>A
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