Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E975fs

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.E975fs
c.2923_2924fs
Surrounding Variants
2 papers
NM_001034853.2
p.E973delFs
c.2919delT
1 paper
NM_001034853.2
p.E976D
c.2928A>T
1 paper
NM_001034853.2
p.E976D
c.2928A>C
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.G977*
c.2929G>T
3 papers
NM_001034853.2
p.E973*
c.2917G>T
2 papers
NM_001034853.2
p.E973fs
c.2917_2918fs
1 paper
NM_001034853.2
p.G977_E978insFs
c.2931_2932ins29
1 paper
NM_001034853.2
p.G977_E978insFs
c.2931_2932ins4
1 paper
NM_001034853.2
p.G977_E978insFs
c.2931_2932ins34
3 papers
NM_001034853.2
p.E978fs
c.2932_2933fs
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