Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E984*

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.E984*
c.2950G>T
Surrounding Variants
2 papers
NM_001034853.2
p.E984fs
c.2950_2951fs
1 paper
NM_001034853.2
p.E983*
c.2947G>T
5 papers
NM_001034853.2
p.E982delFs
c.2944delC
1 paper
NM_001034853.2
p.E984_E985del1
c.2952_2954delTCC
1 paper
NM_001034853.2
p.G986*
c.2956G>T
1 paper
NM_001034853.2
p.E980insFs
c.2939_2940ins5
1 paper
NM_001034853.2
p.E975_G981insFs
c.2924_2943dup20
5 papers
NM_001034853.2
p.E982fs
c.2944_2945fs
1 paper
NM_001034853.2
p.E985del1
c.2953_2954delTTC
3 papers
NM_001034853.2
p.E987*
c.2959G>T
1 paper
NM_001034853.2
p.E980insFs
c.2939_2940insAG
2 papers
NM_001034853.2
p.E973_E980insFs
c.2919_2940dup22
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."