Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E926_E931delFs

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.E926_E931delFs
c.2778_2791del14
Surrounding Variants
2 papers
NM_001034853.2
p.E931delFs
c.2791delC
5 papers
NM_001034853.2
p.G930_E931delFs
c.2790_2791delCC
1 paper
NM_001034853.2
p.E931K
c.2791G>A
5 papers
NM_001034853.2
p.E931delFs
c.2792delT
5 papers
NM_001034853.2
p.E931fs
c.2791_2792fs
1 paper
NM_001034853.2
p.G930fs
c.2788_2789fs
3 papers
NM_001034853.2
p.E933fs
c.2797_2798fs
1 paper
NM_001034853.2
p.E926_E929del0
c.2778_2786del9
1 paper
NM_001034853.2
p.G932insFs
c.2796dupG
5 papers
NM_001034853.2
p.E933delFs
c.2797delC
1 paper
NM_001034853.2
p.E929*
c.2785G>T
2 papers
NM_001034853.2
p.E934*
c.2800G>T
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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."