Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.A90A

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.A90A
c.270A>C
Surrounding Variants
1 paper
NM_000055.4
p.C94Y
c.281G>A
1 paper
NM_000055.4
p.Q95Q
c.285G>A
3 papers
NM_000055.4
p.N96Y
c.286A>T
1 paper
NM_000055.4
p.W84*
c.252G>A
1 paper
NM_000055.4
p.N96_I97insFs
c.288_289insT
1 paper
NM_000055.4
p.W84*
c.251G>A
1 paper
NM_000055.4
p.I97insFs
c.289_290insT
45 papers
NM_000055.4
p.D98G
c.293A>G
1 paper
NM_000055.4
p.D82A
c.245A>C
1 paper
NM_000055.4
p.H105Y
c.313C>T
1 paper
NM_000055.4
p.P74P
c.222A>G
1 paper
NM_000055.4
p.P74delFs
c.221delG
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