Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.G393R

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.G393R
c.1177G>A
Surrounding Variants
1 paper
NM_000055.4
p.G393R
c.1177G>C
1 paper
NM_000055.4
p.K394R
c.1181A>G
3 papers
NM_000055.4
p.E395_S396insA
c.1183_1187ins3
3 papers
NM_000055.4
p.S390I
c.1169G>T
1 paper
NM_000055.4
p.P387fs
c.1159_1160fs
1 paper
NM_000055.4
p.F386delFs
c.1158delA
1 paper
NM_000055.4
p.F385L
c.1155T>A
1 paper
NM_000055.4
p.Y401_T402insA
c.1201_1205ins3
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.P410S
c.1228C>T
1 paper
NM_000055.4
p.P410A
c.1228C>G
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