Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.W138*

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.W138*
c.413G>A
Surrounding Variants
3 papers
NM_016006.6
p.W138*
c.414G>A
1 paper
NM_016006.6
p.E137D
c.411G>C
1 paper
NM_016006.6
p.E137D
c.411G>T
1 paper
NM_016006.6
p.F131_V132insFs
c.393_394insG
15 papers
NM_016006.6
p.Q130P
c.389A>C
1 paper
NM_016006.6
p.M147I
c.441G>A
1 paper
NM_016006.6
p.M147I
c.441G>C
1 paper
NM_016006.6
p.M147I
c.441G>T
1 paper
NM_016006.6
p.I148insFs
c.442_443insTC
1 paper
NM_016006.6
p.L149fs
c.445_446fs
1 paper
NM_016006.6
p.N153S
c.458A>G
1 paper
NM_016006.6
p.L154R
c.461T>G
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