Varaico: Literature-Extracted Genetic Variants

Gene:ABHD3
Variant:p.S207R

ABHD3

26 papers

RefSeq Summary

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided ...

Pfam Domains

Abhydrolase_1aa 140–382UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 3, phospholipase

HGNC Alias Symbol

LABH3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138340.5
p.S207R
c.621C>G
Surrounding Variants
1 paper
NM_138340.5
p.S207R
c.621C>A
1 paper
NM_138340.5
p.S207R
c.619A>C
1 paper
NM_138340.5
p.P187R
c.560C>G
1 paper
NM_138340.5
p.G223V
c.668G>T
1 paper
NM_138340.5
p.L239F
c.717G>T
1 paper
NM_138340.5
p.L239F
c.717G>C
1 paper
NM_138340.5
p.D291Y
c.871G>T
1 paper
NM_138340.5
p.V334L
c.1000G>T
1 paper
NM_138340.5
p.V334L
c.1000G>C
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