Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.L187fs

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.L187fs
c.559_560fs
Surrounding Variants
1 paper
NM_016006.6
p.A188V
c.563C>T
1 paper
NM_016006.6
p.P185_L187Fs
c.554_559delinsTGTGFs
6 papers
NM_016006.6
p.L187_P193delFs
c.560_578del19
14 papers
NM_016006.6
p.R184*
c.550C>T
5 papers
NM_016006.6
p.Q190*
c.568C>T
1 paper
NM_016006.6
p.F181delFs
c.543delC
1 paper
NM_016006.6
p.W179*
c.537G>A
1 paper
NM_016006.6
p.W179*
c.536G>A
1 paper
NM_016006.6
p.W179fs
c.535_536fs
3 papers
NM_016006.6
p.P195L
c.584C>T
1 paper
NM_016006.6
p.V196_W197delFs
c.588_591del4
1 paper
NM_016006.6
p.W197S
c.590G>C
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