Varaico: Literature-Extracted Genetic Variants

Gene:CMBL
Variant:p.P87A

CMBL

25 papers

RefSeq Summary

CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester p...

Pfam Domains

DLHaa 30–245UCSCDienelactone hydrolase family

Gene Aliases

HGNC Name

carboxymethylenebutenolidase homolog

HGNC Alias Symbol

FLJ23617

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138809.4
p.P87A
c.259C>G
Surrounding Variants
1 paper
NM_138809.4
p.W91*
c.272G>A
1 paper
NM_138809.4
p.W91*
c.273G>A
1 paper
NM_138809.4
p.S92S
c.276T>C
1 paper
NM_138809.4
p.E109D
c.327G>T
1 paper
NM_138809.4
p.E109D
c.327G>C
1 paper
NM_138809.4
p.C121R
c.361T>C
1 paper
NM_138809.4
p.Q124R
c.371A>G
1 paper
NM_138809.4
p.G134A
c.401G>C
1 paper
NM_138809.4
p.M142I
c.426G>T
1 paper
NM_138809.4
p.M142I
c.426G>C
1 paper
NM_138809.4
p.M142I
c.426G>A
1 paper
NM_138809.4
p.S146*
c.437C>G
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