Varaico: Literature-Extracted Genetic Variants

Gene:ABHD10
Variant:p.K70M

ABHD10

24 papers

RefSeq Summary

This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for...

Pfam Domains

Abhydrolase_1aa 76–199UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 10, depalmitoylase

HGNC Alias Symbol

FLJ11342

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018394.4
p.K70M
c.209A>T
Surrounding Variants
1 paper
NM_018394.4
p.K74*
c.220A>T
1 paper
NM_018394.4
p.I79F
c.235A>T
1 paper
NM_018394.4
p.R60R
c.180A>T
1 paper
NM_018394.4
p.S56S
c.168A>T
1 paper
NM_018394.4
p.T53T
c.159G>A
1 paper
NM_018394.4
p.M88L
c.262A>C
1 paper
NM_018394.4
p.M88L
c.262A>T
1 paper
NM_018394.4
p.N89I
c.266A>T
1 paper
NM_018394.4
p.C49S
c.145T>A
1 paper
NM_018394.4
p.A93E
c.278C>A
1 paper
NM_018394.4
p.A93V
c.278C>T
1 paper
NM_018394.4
p.L94L
c.282G>A
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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."