Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.R114L

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
4 papers
NM_016006.6
p.R114L
c.341G>T
Surrounding Variants
1 paper
NM_016006.6
p.S115R
c.343A>C
14 papers
NM_016006.6
p.S115G
c.343A>G
2 papers
NM_016006.6
p.S115N
c.344G>A
1 paper
NM_016006.6
p.G113A
c.338G>C
1 paper
NM_016006.6
p.S115R
c.345T>A
1 paper
NM_016006.6
p.S115R
c.345T>G
1 paper
NM_016006.6
p.F107insFs
c.319_320insTC
1 paper
NM_016006.6
p.Y105ins2
c.314_315ins6
6 papers
NM_016006.6
p.C99*
c.297C>A
15 papers
NM_016006.6
p.Q130P
c.389A>C
1 paper
NM_016006.6
p.F131_V132insFs
c.393_394insG
1 paper
NM_016006.6
p.E137D
c.411G>C
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