Varaico: Literature-Extracted Genetic Variants

Gene:RPIA
Variant:p.G206R

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.G206R
c.616G>C
Surrounding Variants
1 paper
NM_144563.3
p.G206R
c.616G>A
1 paper
NM_144563.3
p.Q208*
c.622C>T
1 paper
NM_144563.3
p.I215I
c.645C>T
1 paper
NM_144563.3
p.E216E
c.648G>A
1 paper
NM_144563.3
p.V225L
c.673G>T
1 paper
NM_144563.3
p.R227*
c.679C>T
1 paper
NM_144563.3
p.R199Splc
c.596+3A>G
3 papers
NM_144563.3
p.F198L
c.594C>A
3 papers
NM_144563.3
p.F198L
c.594C>G
3 papers
NM_144563.3
p.F198L
c.592T>C
1 paper
NM_144563.3
p.A196T
c.586G>A
1 paper
NM_144563.3
p.G254delFs
c.762delG
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