Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.D30E

BCHE

407 papers

RefSeq Summary

This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxifica...

Pfam Domains

COesteraseaa 30–550UCSCCarboxylesterase family
AChE_tetraaa 565–599UCSCAcetylcholinesterase tetramerisation domain

Gene Aliases

HGNC Name

butyrylcholinesterase

HGNC Previous Symbols

CHE1; CHE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000055.4
p.D30E
c.90T>A
Surrounding Variants
1 paper
NM_000055.4
p.D30N
c.88G>A
1 paper
NM_000055.4
p.D31E
c.93C>G
1 paper
NM_000055.4
p.D31E
c.93C>A
1 paper
NM_000055.4
p.I32N
c.95T>A
1 paper
NM_000055.4
p.E29*
c.85G>T
2 papers
NM_000055.4
p.T36I
c.107C>T
1 paper
NM_000055.4
p.T36K
c.107C>A
2 papers
NM_000055.4
p.K25*
c.73A>T
1 paper
NM_000055.4
p.G24insFs
c.70_71insG
1 paper
NM_000055.4
p.K37T
c.110A>C
1 paper
NM_000055.4
p.K37N
c.111G>T
1 paper
NM_000055.4
p.K37N
c.111G>C
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