Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.V1025_E1029del0

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.V1025_E1029del0
c.3074_3085del12
Surrounding Variants
1 paper
NM_001034853.2
p.E1029*
c.3085G>T
1 paper
NM_001034853.2
p.G1030R
c.3088G>C
1 paper
NM_001034853.2
p.G1030R
c.3088G>A
1 paper
NM_001034853.2
p.E1026_G1027delFs
c.3077_3081del5
3 papers
NM_001034853.2
p.E1026_G1027delFs
c.3077_3080del4
1 paper
NM_001034853.2
p.E1024_G1027delFs
c.3071_3080del10
19 papers
NM_001034853.2
p.E1031fs
c.3091_3092fs
2 papers
NM_001034853.2
p.E1031G
c.3092A>G
3 papers
NM_001034853.2
p.E1031fs
c.3091_3092fs
24 papers
NM_001034853.2
p.E1031delFs
c.3092delT
8 papers
NM_001034853.2
p.E1031delFs
c.3092_3093delCT
1 paper
NM_001034853.2
p.G1032E
c.3095G>A
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."