Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E973delFs

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.E973delFs
c.2919delT
Surrounding Variants
1 paper
NM_001034853.2
p.E973delFs
c.2917delC
2 papers
NM_001034853.2
p.G972_E973delFs
c.2916_2917delCC
3 papers
NM_001034853.2
p.E973*
c.2917G>T
1 paper
NM_001034853.2
p.E975fs
c.2923_2924fs
2 papers
NM_001034853.2
p.E973fs
c.2917_2918fs
1 paper
NM_001034853.2
p.E971E
c.2913A>G
1 paper
NM_001034853.2
p.E976D
c.2928A>T
1 paper
NM_001034853.2
p.E976D
c.2928A>C
3 papers
NM_001034853.2
p.G977*
c.2929G>T
2 papers
NM_001034853.2
p.E969_G970delFs
c.2907_2910del4
1 paper
NM_001034853.2
p.G970delFs
c.2909delC
1 paper
NM_001034853.2
p.G977_E978insFs
c.2931_2932ins29
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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."