Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G787_E788del1

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.G787_E788del1
c.2360_2362delCTC
Surrounding Variants
2 papers
NM_001034853.2
p.E788_E789insFs
c.2364_2365insAG
4 papers
NM_001034853.2
p.E788fs
c.2362_2363fs
1 paper
NM_001034853.2
p.E788delFs
c.2363_2364delCT
2 papers
NM_001034853.2
p.E789fs
c.2365_2366fs
2 papers
NM_001034853.2
p.G787*
c.2359G>T
1 paper
NM_001034853.2
p.E789D
c.2367A>C
5 papers
NM_001034853.2
p.E788_E789delFs
c.2362_2366del5
1 paper
NM_001034853.2
p.E790*
c.2368G>T
1 paper
NM_001034853.2
p.K786fs
c.2356_2357fs
1 paper
NM_001034853.2
p.E790fs
c.2368_2369fs
1 paper
NM_001034853.2
p.K786T
c.2357A>C
1 paper
NM_001034853.2
p.K786insFs
c.2357_2358ins8
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."