Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E926fs

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
2 papers
NM_001034853.2
p.E926fs
c.2776_2777fs
Surrounding Variants
2 papers
NM_001034853.2
p.E926delFs
c.2777_2778delCT
3 papers
NM_001034853.2
p.E927fs
c.2779_2780fs
2 papers
NM_001034853.2
p.E927delFs
c.2779delC
2 papers
NM_001034853.2
p.G928*
c.2782G>T
1 paper
NM_001034853.2
p.E923E
c.2769G>A
1 paper
NM_001034853.2
p.G928G
c.2784A>G
1 paper
NM_001034853.2
p.E929*
c.2785G>T
2 papers
NM_001034853.2
p.E922fs
c.2764_2765fs
1 paper
NM_001034853.2
p.E922G
c.2765A>G
2 papers
NM_001034853.2
p.E922delFs
c.2764delC
4 papers
NM_001034853.2
p.G921_E922delFs
c.2763_2764delCC
1 paper
NM_001034853.2
p.E926_E929del0
c.2778_2786del9
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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."