Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G895*

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.G895*
c.2683G>T
Surrounding Variants
1 paper
NM_001034853.2
p.G895G
c.2685A>G
2 papers
NM_001034853.2
p.G893_E894delFs
c.2679_2680delCC
3 papers
NM_001034853.2
p.E894fs
c.2680_2681fs
2 papers
NM_001034853.2
p.G891_E892del2
c.2671_2675del6
1 paper
NM_001034853.2
p.G893V
c.2678G>T
2 papers
NM_001034853.2
p.E894_G895del2
c.2680_2684del6
2 papers
NM_001034853.2
p.E897*
c.2689G>T
1 paper
NM_001034853.2
p.G891V
c.2672G>T
1 paper
NM_001034853.2
p.E890_E898ins3
c.2670_2693dup24
1 paper
NM_001034853.2
p.E890del1
c.2668_2669delTTC
4 papers
NM_001034853.2
p.E888_E889del2
c.2662_2666del6
2 papers
NM_001034853.2
p.E899*
c.2695G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."