Varaico: Literature-Extracted Genetic Variants

Gene:PGGHG
Variant:p.P673T

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.P673T
c.2017C>A
Surrounding Variants
1 paper
NM_025092.5
p.V643M
c.1927G>A
1 paper
NM_025092.5
p.A683A
c.2049T>C
1 paper
NM_025092.5
p.R685Q
c.2054G>A
1 paper
NM_025092.5
p.P690P
c.2070C>A
1 paper
NM_025092.5
p.G626fs
c.1876_1877fs
1 paper
NM_025092.5
p.S625S
c.1875C>T
1 paper
NM_025092.5
p.G626delFs
c.1876delG
1 paper
NM_025092.5
p.S617S
c.1851G>A
1 paper
NM_025092.5
p.A607V
c.1820C>T
1 paper
NM_025092.5
p.S715I
c.2144G>T
1 paper
NM_025092.5
p.T727insFs
c.2179_2180insC
1 paper
NM_025092.5
p.P734R
c.2201C>G
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