Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E802G

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.E802G
c.2405A>G
Surrounding Variants
8 papers
NM_001034853.2
p.E802fs
c.2404_2405fs
1 paper
NM_001034853.2
p.E802delFs
c.2405delT
48 papers
NM_001034853.2
p.E802fs
c.2404_2405fs
76 papers
NM_001034853.2
p.E802delFs
c.2405_2406delCT
5 papers
NM_001034853.2
p.T801_E802delFs
c.2403_2406del4
1 paper
NM_001034853.2
p.T801_E802del2
c.2401_2405del6
1 paper
NM_001034853.2
p.T801delFs
c.2402delG
1 paper
NM_001034853.2
p.E800_T801delFs
c.2400_2401delTT
1 paper
NM_001034853.2
p.E797_G803insFs
c.2390_2408dup19
2 papers
NM_001034853.2
p.T801_E802insG
c.2401_2405ins3
1 paper
NM_001034853.2
p.E800delFs
c.2398delC
1 paper
NM_001034853.2
p.E800fs
c.2398_2399fs
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."