Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.I198_R199insFs

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
16 papers
NM_016006.6
p.I198_R199insFs
c.594_595insC
Surrounding Variants
1 paper
NM_016006.6
p.I198T
c.593T>C
1 paper
NM_016006.6
p.R199fs
c.595_596fs
5 papers
NM_016006.6
p.R199fs
c.595_596fs
1 paper
NM_016006.6
p.W197S
c.590G>C
1 paper
NM_016006.6
p.V196_W197delFs
c.588_591del4
3 papers
NM_016006.6
p.P195L
c.584C>T
1 paper
NM_016006.6
p.A204S
c.610G>T
1 paper
NM_016006.6
p.T206ins1
c.616_617insGGG
1 paper
NM_016006.6
p.T206fs
c.616_617fs
5 papers
NM_016006.6
p.Q190*
c.568C>T
1 paper
NM_016006.6
p.A188V
c.563C>T
4 papers
NM_016006.6
p.L187fs
c.559_560fs
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