Varaico: Literature-Extracted Genetic Variants

Gene:RPIA

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
1–12 of 44 variants
3 papers
NM_144563.3
p.F198L
c.592T>C
3 papers
NM_144563.3
p.F198L
c.594C>A
3 papers
NM_144563.3
p.F198L
c.594C>G
2 papers
NM_144563.3
p.A85T
c.253G>A
2 papers
NM_144563.3
p.A116Splc
c.347-1G>A
1 paper
NM_144563.3
p.P4L
c.11C>T
1 paper
NM_144563.3
p.P6S
c.16C>T
1 paper
NM_144563.3
p.P19T
c.55C>A
1 paper
NM_144563.3
p.A22D
c.65C>A
1 paper
NM_144563.3
p.S49F
c.146C>T
1 paper
NM_144563.3
p.R52H
c.155G>A
1 paper
NM_144563.3
p.G56S
c.166G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."