Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.G87V

ABHD5

150 papers

RefSeq Summary

The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the est...

Pfam Domains

Abhydrolase_1aa 76–334UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

HGNC Alias Symbols

CGI-58; NCIE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016006.6
p.G87V
c.260G>T
Surrounding Variants
1 paper
NM_016006.6
p.G87A
c.260G>C
10 papers
NM_016006.6
p.H82R
c.245A>G
1 paper
NM_016006.6
p.P77Q
c.230C>A
6 papers
NM_016006.6
p.C99*
c.297C>A
6 papers
NM_016006.6
p.S73A
c.217T>G
4 papers
NM_016006.6
p.I72T
c.215T>C
1 paper
NM_016006.6
p.Y105ins2
c.314_315ins6
1 paper
NM_016006.6
p.F107insFs
c.319_320insTC
1 paper
NM_016006.6
p.K67*
c.199A>T
2 papers
NM_016006.6
p.T65A
c.193A>G
1 paper
NM_016006.6
p.G113A
c.338G>C
4 papers
NM_016006.6
p.R114L
c.341G>T
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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."