Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.F223fs

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
2 papers
NM_000055.4
p.F223fs
c.667_668fs
Surrounding Variants
1 paper
NM_000055.4
p.L222_F223delFs
c.666_667delAG
1 paper
NM_000055.4
p.L222R
c.665T>G
2 papers
NM_000055.4
p.L222H
c.665T>A
2 papers
NM_000055.4
p.L222_F223delFs
c.666_669del4
7 papers
NM_000055.4
p.S226G
c.676A>G
1 paper
NM_000055.4
p.S226I
c.677G>T
2 papers
NM_000055.4
p.S226N
c.677G>A
1 paper
NM_000055.4
p.A227V
c.680C>T
1 paper
NM_000055.4
p.A229T
c.685G>A
1 paper
NM_000055.4
p.S231L
c.692C>T
3 papers
NM_000055.4
p.V232D
c.695T>A
9 papers
NM_000055.4
p.A212V
c.635C>T
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