Varaico: Literature-Extracted Genetic Variants

Gene:PGGHG
Variant:p.S530fs

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
Selected Variant
1 paper
NM_025092.5
p.S530fs
c.1588_1589fs
Surrounding Variants
1 paper
NM_025092.5
p.E526K
c.1576G>A
1 paper
NM_025092.5
p.L522R
c.1565T>G
1 paper
NM_025092.5
p.W538_S539Splc
c.1615-1G>A
1 paper
NM_025092.5
p.E492Q
c.1474G>C
1 paper
NM_025092.5
p.P486R
c.1457C>G
1 paper
NM_025092.5
p.T573T
c.1719G>A
1 paper
NM_025092.5
p.E574Q
c.1720G>C
1 paper
NM_025092.5
p.A581T
c.1741G>A
1 paper
NM_025092.5
p.L444L
c.1332G>A
1 paper
NM_025092.5
p.C599C
c.1797C>T
1 paper
NM_025092.5
p.S433S
c.1299A>C
1 paper
NM_025092.5
p.H432R
c.1295A>G
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