Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5

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
1–12 of 138 variants
16 papers
NM_016006.6
p.I198_R199insFs
c.594_595insC
15 papers
NM_016006.6
p.Q130P
c.389A>C
15 papers
NM_016006.6
p.E260K
c.778G>A
14 papers
NM_016006.6
p.S115G
c.343A>G
14 papers
NM_016006.6
p.R184*
c.550C>T
13 papers
NM_016006.6
p.R234*
c.700C>T
12 papers
NM_016006.6
p.R312*
c.934C>T
11 papers
NM_016006.6
p.E7K
c.19G>A
10 papers
NM_016006.6
p.H82R
c.245A>G
10 papers
NM_016006.6
p.H251P
c.752A>C
9 papers
NM_016006.6
p.R16Splc
c.47+1G>A
8 papers
NM_016006.6
p.S33*
c.98C>G
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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."