Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.M465I

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.M465I
c.1395G>A
Surrounding Variants
1 paper
NM_000055.4
p.M465I
c.1395G>T
1 paper
NM_000055.4
p.M465I
c.1395G>C
3 papers
NM_000055.4
p.H466R
c.1397A>G
1 paper
NM_000055.4
p.H466Q
c.1398T>G
1 paper
NM_000055.4
p.H466Q
c.1398T>A
4 papers
NM_000055.4
p.G467S
c.1399G>A
1 paper
NM_000055.4
p.G467V
c.1400G>T
1 paper
NM_000055.4
p.G467D
c.1400G>A
1 paper
NM_000055.4
p.G463G
c.1389A>G
2 papers
NM_000055.4
p.M462I
c.1386G>T
2 papers
NM_000055.4
p.M462I
c.1386G>C
2 papers
NM_000055.4
p.M462I
c.1386G>A
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