Varaico: Literature-Extracted Genetic Variants

Gene:RPE
Variant:p.V143_E144Fs

RPE

83 papers

Pfam Domains

Ribul_P_3_epimaa 6–201UCSCRibulose-phosphate 3 epimerase family

Gene Aliases

HGNC Name

ribulose-5-phosphate-3-epimerase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199229.3
p.V143_E144Fs
c.429_432delinsGGTFs
Surrounding Variants
1 paper
NM_199229.3
p.K151R
c.452A>G
1 paper
NM_199229.3
p.M157I
c.471G>A
1 paper
NM_199229.3
p.P130insFs
c.389dupC
1 paper
NM_199229.3
p.K159*
c.475A>T
1 paper
NM_199229.3
p.K159K
c.477G>A
1 paper
NM_199229.3
p.G122R
c.364G>A
1 paper
NM_199229.3
p.G122R
c.364G>C
1 paper
NM_199229.3
p.N111T
c.332A>C
1 paper
NM_199229.3
p.P101T
c.301C>A
1 paper
NM_199229.3
p.A86T
c.256G>A
1 paper
NM_199229.3
p.M83K
c.248T>A
1 paper
NM_199229.3
p.W79delFs
c.236delG
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