Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E752D

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.E752D
c.2256G>T
Surrounding Variants
1 paper
NM_001034853.2
p.E752fs
c.2254_2255fs
1 paper
NM_001034853.2
p.E752D
c.2256G>C
6 papers
NM_001034853.2
p.K751_E752delFs
c.2252_2255del4
1 paper
NM_001034853.2
p.G753_E754insG
c.2257_2261ins3
1 paper
NM_001034853.2
p.E750_K751del2
c.2248_2252del6
1 paper
NM_001034853.2
p.E752delFs
c.2254delC
11 papers
NM_001034853.2
p.G753fs
c.2257_2258fs
1 paper
NM_001034853.2
p.E750_K751delFs
c.2249_2253del5
2 papers
NM_001034853.2
p.G753fs
c.2257_2258fs
7 papers
NM_001034853.2
p.E754*
c.2260G>T
2 papers
NM_001034853.2
p.E754fs
c.2260_2261fs
3 papers
NM_001034853.2
p.E750_K751delFs
c.2250_2251delTC
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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."