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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCHE

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 311 variants

45 papers

chr3:165830741 T>C

NM_000055.4

p.D98G

c.293A>G

COesterase

Exome: 1.6% (AC=23967, hom=228)Genome: 1.2% (AC=1894, hom=18)69 overlapping SVs

36 papers

chr3:165773492 C>T

NM_000055.4

p.A567T

c.1699G>A

AChE_tetra

Exome: 19.5% (AC=283194, hom=28481)Genome: 18.3% (AC=27789, hom=2527)65 overlapping SVs

14 papers

chr3:165830222 G>A

NM_000055.4

p.T271M

c.812C>T

COesterase

Exome: 0.1% (AC=1117, hom=0)Genome: 0.1% (AC=89, hom=1)69 overlapping SVs

14 papers

chr3:165829781 C>A

NM_000055.4

p.G418V

c.1253G>T

COesterase

Exome: 0.4% (AC=6034, hom=17)Genome: 0.3% (AC=475, hom=1)68 overlapping SVs

12 papers

chr3:165829794 G>A

NM_000055.4

p.R414C

c.1240C>T

COesterase

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=2, hom=0)68 overlapping SVs

9 papers

chr3:165830606 C>T

NM_000055.4

p.G143D

c.428G>A

COesterase

Exome: 0.0% (AC=476, hom=0)Genome: 0.0% (AC=53, hom=0)69 overlapping SVs

9 papers

chr3:165830399 G>A

NM_000055.4

p.A212V

c.635C>T

COesterase

Exome: 0.4% (AC=5714, hom=11)Genome: 0.2% (AC=376, hom=0)69 overlapping SVs

8 papers

chr3:165830526 C>T

NM_000055.4

p.V170M

c.508G>A

COesterase

Exome: 0.0% (AC=47, hom=0)Genome: 0.0% (AC=4, hom=0)69 overlapping SVs

7 papers

chr3:165830632 A>AT

NM_000055.4

p.N134insFs

c.401dupA

COesterase

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=3, hom=0)69 overlapping SVs

7 papers

chr3:165830358 T>C

NM_000055.4

p.S226G

c.676A>G

COesterase

Exome: 0.0% (AC=206, hom=0)Genome: 0.0% (AC=13, hom=0)69 overlapping SVs

6 papers

chr3:165830599 A>CT

NM_000055.4

p.G145Fs

c.435delinsAGFs

COesterase

exact variant not in gnomAD69 overlapping SVs

5 papers

chr3:165831002 C>T

NM_000055.4

p.R11K

c.32G>A

exact variant not in gnomAD69 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."