Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E839*

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.E839*
c.2515G>T
Surrounding Variants
1 paper
NM_001034853.2
p.E839fs
c.2515_2516fs
1 paper
NM_001034853.2
p.E838E
c.2514G>A
1 paper
NM_001034853.2
p.E839E
c.2517A>G
1 paper
NM_001034853.2
p.E839fs
c.2515_2516fs
1 paper
NM_001034853.2
p.E838delFs
c.2512delC
1 paper
NM_001034853.2
p.E839delFs
c.2517delT
2 papers
NM_001034853.2
p.E837D
c.2511G>T
1 paper
NM_001034853.2
p.E837fs
c.2509_2510fs
2 papers
NM_001034853.2
p.E837D
c.2511G>C
3 papers
NM_001034853.2
p.E839_G840delFs
c.2517_2518delCT
2 papers
NM_001034853.2
p.G833_G840del0
c.2499_2519del21
2 papers
NM_001034853.2
p.E837*
c.2509G>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."