Varaico: Literature-Extracted Genetic Variants

Gene:HDHD2
Variant:p.P248L

HDHD2

14 papers

Pfam Domains

Hydrolase_6aa 10–104UCSCHaloacid dehalogenase-like hydrolase
Hydrolase_6aa 10–104UCSCHaloacid dehalogenase-like hydrolase
Hydrolase_likeaa 176–250UCSCHAD-hyrolase-like

Gene Aliases

HGNC Name

haloacid dehalogenase like hydrolase domain containing 2

HGNC Alias Symbol

DKFZP564D1378

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032124.5
p.P248L
c.743C>T
Surrounding Variants
1 paper
NM_032124.5
p.H257Q
c.771C>G
1 paper
NM_032124.5
p.H257Q
c.771C>A
1 paper
NM_032124.5
p.G226E
c.677G>A
1 paper
NM_032124.5
p.G212W
c.634G>T
1 paper
NM_032124.5
p.R207M
c.620G>T
1 paper
NM_032124.5
p.R132Splc
c.396-1842T>C
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