Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G902E

RPGR

940 papers

RefSeq Summary

This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body an...

Pfam Domains

WD40_RLDaa 13–363UCSCRCC1-like domain

Gene Aliases

HGNC Name

retinitis pigmentosa GTPase regulator

HGNC Previous Symbols

CRD; RP3; RP15; COD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001034853.2
p.G902E
c.2705G>A
Surrounding Variants
2 papers
NM_001034853.2
p.E901delFs
c.2703delT
1 paper
NM_001034853.2
p.E903*
c.2707G>T
7 papers
NM_001034853.2
p.E903fs
c.2707_2708fs
1 paper
NM_001034853.2
p.E886_G900del15
c.2656_2699del45
1 paper
NM_001034853.2
p.E901delFs
c.2701delC
7 papers
NM_001034853.2
p.G902_E903delFs
c.2706_2707delCC
1 paper
NM_001034853.2
p.E903fs
c.2707_2708fs
1 paper
NM_001034853.2
p.E901fs
c.2701_2702fs
1 paper
NM_001034853.2
p.G902_E903del2
c.2704_2708del6
2 papers
NM_001034853.2
p.E905fs
c.2713_2714fs
2 papers
NM_001034853.2
p.E899*
c.2695G>T
1 paper
NM_001034853.2
p.E905_E906insFs
c.2715_2716ins4
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