Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.C45Splc

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.C45Splc
c.134-2A>G
Surrounding Variants
1 paper
NM_016006.6
p.V46_P47del2
c.136_140del6
1 paper
NM_016006.6
p.V46V
c.138G>T
1 paper
NM_016006.6
p.T49A
c.145A>G
5 papers
NM_016006.6
p.Y50*
c.150C>A
6 papers
NM_016006.6
p.Y50*
c.150C>G
1 paper
NM_016006.6
p.K52ins2
c.154_155ins6
2 papers
NM_016006.6
p.T65A
c.193A>G
1 paper
NM_016006.6
p.K67*
c.199A>T
4 papers
NM_016006.6
p.I72T
c.215T>C
6 papers
NM_016006.6
p.S73A
c.217T>G
1 paper
NM_016006.6
p.P77Q
c.230C>A
10 papers
NM_016006.6
p.H82R
c.245A>G
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