Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.G24insFs

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.G24insFs
c.70_71insG
Surrounding Variants
2 papers
NM_000055.4
p.K25*
c.73A>T
1 paper
NM_000055.4
p.I23V
c.67A>G
2 papers
NM_000055.4
p.L22H
c.65T>A
1 paper
NM_000055.4
p.E29*
c.85G>T
1 paper
NM_000055.4
p.C20_M21ins1
c.60_61insAGC
1 paper
NM_000055.4
p.D30N
c.88G>A
1 paper
NM_000055.4
p.D30E
c.90T>A
1 paper
NM_000055.4
p.F16_L18del3
c.46_53del9
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.W15C
c.45G>C
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