Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.S31A

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.S31A
c.91T>G
Surrounding Variants
7 papers
NM_016006.6
p.S33*
c.98C>A
8 papers
NM_016006.6
p.S33*
c.98C>G
1 paper
NM_016006.6
p.P29_T30del2
c.85_89del6
1 paper
NM_016006.6
p.W27R
c.79T>A
1 paper
NM_016006.6
p.W27R
c.79T>C
1 paper
NM_016006.6
p.P25_T26ins2
c.75_76ins6
1 paper
NM_016006.6
p.E37_A38insFs
c.111_112ins4
2 papers
NM_016006.6
p.S17*
c.50C>A
2 papers
NM_016006.6
p.S17*
c.50C>G
1 paper
NM_016006.6
p.R16Splc
c.48-2A>G
1 paper
NM_016006.6
p.C45Splc
c.134-2A>G
1 paper
NM_016006.6
p.V46_P47del2
c.136_140del6
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