Varaico: Literature-Extracted Genetic Variants

Gene:HDHD5
Variant:p.G148Splc

HDHD5

24 papers

Pfam Domains

Hydrolase_6aa 49–152UCSCHaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

haloacid dehalogenase like hydrolase domain containing 5

HGNC Previous Symbol

CECR5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033070.3
p.G148Splc
c.443+2T>C
Surrounding Variants
1 paper
NM_033070.3
p.C109W
c.327C>G
1 paper
NM_033070.3
p.G108W
c.322G>T
1 paper
NM_033070.3
p.G48G
c.144G>A
2 papers
NM_033070.3
p.R174W
c.520C>T
1 paper
NM_033070.3
p.R175W
c.523C>T
1 paper
NM_033070.3
p.R188H
c.563G>A
1 paper
NM_033070.3
p.L193I
c.577C>A
1 paper
NM_033070.3
p.L212F
c.634C>T
1 paper
NM_033070.3
p.K246R
c.737A>G
1 paper
NM_033070.3
p.T267M
c.800C>T
1 paper
NM_033070.3
p.E289K
c.865G>A
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