Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.G364D

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.G364D
c.1091G>A
Surrounding Variants
1 paper
NM_000055.4
p.K367_D368insFs
c.1101_1102insT
1 paper
NM_000055.4
p.Y360D
c.1078T>G
1 paper
NM_000055.4
p.N370I
c.1109A>T
4 papers
NM_000055.4
p.N370S
c.1109A>G
4 papers
NM_000055.4
p.L358I
c.1072T>A
2 papers
NM_000055.4
p.A356D
c.1067C>A
3 papers
NM_000055.4
p.I373T
c.1118T>C
1 paper
NM_000055.4
p.V349I
c.1045G>A
1 paper
NM_000055.4
p.L382F
c.1146A>T
1 paper
NM_000055.4
p.L382F
c.1146A>C
1 paper
NM_000055.4
p.I345T
c.1034T>C
1 paper
NM_000055.4
p.Q344insFs
c.1030_1031insC
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