Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.I320_A321Splc

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.I320_A321Splc
c.960+6T>A
Surrounding Variants
7 papers
NM_016006.6
p.I320_A321Splc
c.960+5G>A
1 paper
NM_016006.6
p.T319_I320insTC
c.955_959ins6
12 papers
NM_016006.6
p.R312*
c.934C>T
2 papers
NM_016006.6
p.R312fs
c.934_935fs
1 paper
NM_016006.6
p.L311insFs
c.933dupA
1 paper
NM_016006.6
p.I308M
c.924C>G
3 papers
NM_016006.6
p.G305V
c.914G>T
4 papers
NM_016006.6
p.R297*
c.889C>T
1 paper
NM_016006.6
p.G295C
c.883G>T
2 papers
NM_016006.6
p.P289S
c.865C>T
6 papers
NM_016006.6
p.R280*
c.838C>T
2 papers
NM_016006.6
p.Q279delFs
c.836delA
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