Varaico: Literature-Extracted Genetic Variants

Gene:PGGHG
Variant:p.G331R

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.G331R
c.991G>C
Surrounding Variants
1 paper
NM_025092.5
p.G331R
c.991G>A
1 paper
NM_025092.5
p.T328M
c.983C>T
1 paper
NM_025092.5
p.R325C
c.973C>T
1 paper
NM_025092.5
p.Q342_G343Splc
c.1026+15G>C
1 paper
NM_025092.5
p.L304I
c.910C>A
1 paper
NM_025092.5
p.P359L
c.1076C>T
1 paper
NM_025092.5
p.E360A
c.1079A>C
1 paper
NM_025092.5
p.D387E
c.1161C>G
1 paper
NM_025092.5
p.Q389K
c.1165C>A
1 paper
NM_025092.5
p.R392R
c.1174C>A
1 paper
NM_025092.5
p.Y294F
c.881A>T
1 paper
NM_025092.5
p.R290H
c.869G>A
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