Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.R16delFs

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.R16delFs
c.46_47delAG
Surrounding Variants
5 papers
NM_016006.6
p.G14*
c.40G>T
1 paper
NM_016006.6
p.T13T
c.39C>T
2 papers
NM_016006.6
p.R16fs
c.46_47fs
9 papers
NM_016006.6
p.R16Splc
c.47+1G>A
1 paper
NM_016006.6
p.S10delFs
c.29_30delCT
1 paper
NM_016006.6
p.D9delFs
c.26delA
1 paper
NM_016006.6
p.D9fs
c.25_26fs
11 papers
NM_016006.6
p.E7K
c.19G>A
1 paper
NM_016006.6
p.E5ins2
c.14_15ins6
1 paper
NM_016006.6
p.R16Splc
c.47+62T>A
1 paper
NM_016006.6
p.R16Splc
c.48-2A>G
2 papers
NM_016006.6
p.S17*
c.50C>A
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