Varaico: Literature-Extracted Genetic Variants

Gene:PGLS

PGLS

29 papers

Pfam Domains

Glucosamine_isoaa 13–238UCSCGlucosamine-6-phosphate isomerases/6-phosphogluconolactonase

Gene Aliases

HGNC Name

6-phosphogluconolactonase

HGNC Alias Symbol

6PGL

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
3 papers
NM_012088.3
p.D125E
c.375C>A
3 papers
NM_012088.3
p.D125E
c.375C>G
1 paper
NM_012088.3
p.A3T
c.7G>A
1 paper
NM_012088.3
p.G7insFs
c.20dupG
1 paper
NM_012088.3
p.V11M
c.31G>A
1 paper
NM_012088.3
p.S49G
c.145A>G
1 paper
NM_012088.3
p.R81S
c.241C>A
1 paper
NM_012088.3
p.S108N
c.323G>A
1 paper
NM_012088.3
p.P115P
c.345C>T
1 paper
NM_012088.3
p.V119G
c.356T>G
1 paper
NM_012088.3
p.R131I
c.392G>T
1 paper
NM_012088.3
p.F142F
c.426C>T
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