Varaico: Literature-Extracted Genetic Variants

Gene:PGGHG

PGGHG

50 papers

Pfam Domains

Glyco_hydro_65maa 282–495UCSCGlycosyl hydrolase family 65 central catalytic domain

Gene Aliases

HGNC Name

protein-glucosylgalactosylhydroxylysine glucosidase

HGNC Previous Symbol

ATHL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
2 papers
NM_025092.5
p.E210K
c.628G>A
1 paper
NM_025092.5
p.T10M
c.29C>T
1 paper
NM_025092.5
p.H37Y
c.109C>T
1 paper
NM_025092.5
p.V64L
c.190G>C
1 paper
NM_025092.5
p.Q102K
c.304C>A
1 paper
NM_025092.5
p.L147L
c.439C>T
1 paper
NM_025092.5
p.E194V
c.581A>T
1 paper
NM_025092.5
p.T202A
c.604A>G
1 paper
NM_025092.5
p.H231Y
c.691C>T
1 paper
NM_025092.5
p.R290C
c.868C>T
1 paper
NM_025092.5
p.R290H
c.869G>A
1 paper
NM_025092.5
p.Y294F
c.881A>T
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