Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.E260K

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
15 papers
NM_016006.6
p.E260K
c.778G>A
Surrounding Variants
3 papers
NM_016006.6
p.G259D
c.776G>A
2 papers
NM_016006.6
p.S258Splc
c.774-1G>A
2 papers
NM_016006.6
p.P269L
c.806C>T
6 papers
NM_016006.6
p.G271R
c.811G>A
6 papers
NM_016006.6
p.G271R
c.811G>C
2 papers
NM_016006.6
p.Q279delFs
c.836delA
2 papers
NM_016006.6
p.Q279fs
c.835_836fs
6 papers
NM_016006.6
p.R280*
c.838C>T
2 papers
NM_016006.6
p.P289S
c.865C>T
1 paper
NM_016006.6
p.G295C
c.883G>T
4 papers
NM_016006.6
p.R297*
c.889C>T
3 papers
NM_016006.6
p.G305V
c.914G>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."