Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.D243Y

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
1 paper
NM_016006.6
p.D243Y
c.727G>T
Surrounding Variants
2 papers
NM_016006.6
p.D243fs
c.727_728fs
2 papers
NM_016006.6
p.T244insFs
c.730dupA
2 papers
NM_016006.6
p.T244fs
c.730_731fs
1 paper
NM_016006.6
p.E247insFs
c.739dupG
1 paper
NM_016006.6
p.M239V
c.715A>G
1 paper
NM_016006.6
p.E247K
c.739G>A
6 papers
NM_016006.6
p.Y250D
c.748T>G
1 paper
NM_016006.6
p.K235K
c.705G>A
10 papers
NM_016006.6
p.H251P
c.752A>C
13 papers
NM_016006.6
p.R234*
c.700C>T
1 paper
NM_016006.6
p.F232delFs
c.695delT
1 paper
NM_016006.6
p.L228*
c.683T>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."