Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E839_G840delFs

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.E839_G840delFs
c.2516_2520del5
Surrounding Variants
1 paper
NM_001034853.2
p.E827_G840insFs
c.2480_2520dup41
1 paper
NM_001034853.2
p.G833_G840delFs
c.2499_2520del22
5 papers
NM_001034853.2
p.E841fs
c.2521_2522fs
2 papers
NM_001034853.2
p.G833_G840del0
c.2499_2519del21
1 paper
NM_001034853.2
p.G833_G840del8
c.2497_2519del24
3 papers
NM_001034853.2
p.E839_G840delFs
c.2517_2518delCT
7 papers
NM_001034853.2
p.E841delFs
c.2522delT
1 paper
NM_001034853.2
p.E839delFs
c.2517delT
1 paper
NM_001034853.2
p.G842E
c.2525G>A
1 paper
NM_001034853.2
p.E839E
c.2517A>G
1 paper
NM_001034853.2
p.E839fs
c.2515_2516fs
1 paper
NM_001034853.2
p.E843*
c.2527G>T
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