Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.I139V

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.I139V
c.415A>G
Surrounding Variants
1 paper
NM_000055.4
p.I139L
c.415A>C
1 paper
NM_000055.4
p.V137I
c.409G>A
1 paper
NM_000055.4
p.I141T
c.422T>C
1 paper
NM_000055.4
p.Y142*
c.426T>A
3 papers
NM_000055.4
p.N134fs
c.400_401fs
7 papers
NM_000055.4
p.N134insFs
c.401dupA
9 papers
NM_000055.4
p.G143D
c.428G>A
4 papers
NM_000055.4
p.N134fs
c.400_401fs
1 paper
NM_000055.4
p.N134Y
c.400A>T
1 paper
NM_000055.4
p.G145C
c.433G>T
1 paper
NM_000055.4
p.G145D
c.434G>A
3 papers
NM_000055.4
p.G145_F146insFs
c.435_436insG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."