Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.M462I

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.M462I
c.1386G>A
Surrounding Variants
2 papers
NM_000055.4
p.M462I
c.1386G>T
2 papers
NM_000055.4
p.M462I
c.1386G>C
1 paper
NM_000055.4
p.M462T
c.1385T>C
1 paper
NM_000055.4
p.W461C
c.1383G>T
1 paper
NM_000055.4
p.W461C
c.1383G>C
1 paper
NM_000055.4
p.G463G
c.1389A>G
1 paper
NM_000055.4
p.E460A
c.1379A>C
4 papers
NM_000055.4
p.E460K
c.1378G>A
1 paper
NM_000055.4
p.M465I
c.1395G>T
1 paper
NM_000055.4
p.M465I
c.1395G>C
1 paper
NM_000055.4
p.M465I
c.1395G>A
1 paper
NM_000055.4
p.P459L
c.1376C>T
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