Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.P74P

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.P74P
c.222A>G
Surrounding Variants
1 paper
NM_000055.4
p.P74delFs
c.221delG
1 paper
NM_000055.4
p.P74A
c.220C>G
1 paper
NM_000055.4
p.P74fs
c.220_221fs
1 paper
NM_000055.4
p.R70Q
c.209G>A
1 paper
NM_000055.4
p.L69R
c.206T>G
1 paper
NM_000055.4
p.L69F
c.205C>T
1 paper
NM_000055.4
p.L69V
c.205C>G
1 paper
NM_000055.4
p.G67V
c.200G>T
1 paper
NM_000055.4
p.D82A
c.245A>C
1 paper
NM_000055.4
p.W84*
c.251G>A
1 paper
NM_000055.4
p.W84*
c.252G>A
4 papers
NM_000055.4
p.Q63Q
c.189G>A
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