Varaico: Literature-Extracted Genetic Variants

Gene:RPIA
Variant:p.G56S

RPIA

45 papers

RefSeq Summary

The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conse...

Pfam Domains

Rib_5-P_isom_Aaa 127–301UCSCRibose 5-phosphate isomerase A (phosphoriboisomerase A)

Gene Aliases

HGNC Name

ribose 5-phosphate isomerase A

HGNC Alias Name

ribose 5-phosphate epimerase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144563.3
p.G56S
c.166G>A
Surrounding Variants
1 paper
NM_144563.3
p.R52H
c.155G>A
1 paper
NM_144563.3
p.S49F
c.146C>T
1 paper
NM_144563.3
p.N66Y
c.196A>T
1 paper
NM_144563.3
p.C69S
c.205T>A
1 paper
NM_144563.3
p.C69S
c.206G>C
1 paper
NM_144563.3
p.M75I
c.225G>C
1 paper
NM_144563.3
p.L84M
c.250C>A
2 papers
NM_144563.3
p.A85T
c.253G>A
1 paper
NM_144563.3
p.A22D
c.65C>A
1 paper
NM_144563.3
p.E91A
c.272A>C
1 paper
NM_144563.3
p.P19T
c.55C>A
1 paper
NM_144563.3
p.R95M
c.284G>T
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