Varaico: Literature-Extracted Genetic Variants

Gene:CMBL

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
1–12 of 31 variants
2 papers
NM_138809.4
p.Y155C
c.464A>G
1 paper
NM_138809.4
p.M1I
c.3G>T
1 paper
NM_138809.4
p.M1I
c.3G>C
1 paper
NM_138809.4
p.M1I
c.3G>A
1 paper
NM_138809.4
p.E28*
c.82G>T
1 paper
NM_138809.4
p.V34I
c.100G>A
1 paper
NM_138809.4
p.V47A
c.140T>C
1 paper
NM_138809.4
p.P87A
c.259C>G
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
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