Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.G145_F146insFs

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
3 papers
NM_000055.4
p.G145_F146insFs
c.435_436insG
Surrounding Variants
6 papers
NM_000055.4
p.G145Fs
c.435delinsAGFs
5 papers
NM_000055.4
p.F146fs
c.436_437fs
1 paper
NM_000055.4
p.G145D
c.434G>A
1 paper
NM_000055.4
p.G145C
c.433G>T
1 paper
NM_000055.4
p.F146fs
c.436_437fs
3 papers
NM_000055.4
p.Q147*
c.439C>T
9 papers
NM_000055.4
p.G143D
c.428G>A
1 paper
NM_000055.4
p.Y142*
c.426T>A
1 paper
NM_000055.4
p.I141T
c.422T>C
1 paper
NM_000055.4
p.I139V
c.415A>G
1 paper
NM_000055.4
p.I139L
c.415A>C
1 paper
NM_000055.4
p.S152S
c.456T>A
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