Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E825_R826delFs

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.E825_R826delFs
c.2474_2477del4
Surrounding Variants
1 paper
NM_001034853.2
p.R826fs
c.2476_2477fs
4 papers
NM_001034853.2
p.R826delFs
c.2476_2477delCT
2 papers
NM_001034853.2
p.K823_R826delFs
c.2467_2477del11
3 papers
NM_001034853.2
p.R826fs
c.2476_2477fs
1 paper
NM_001034853.2
p.G824_R826del0
c.2470_2478del9
1 paper
NM_001034853.2
p.E828*
c.2482G>T
3 papers
NM_001034853.2
p.E828fs
c.2482_2483fs
1 paper
NM_001034853.2
p.E825delFs
c.2473delC
2 papers
NM_001034853.2
p.E825fs
c.2473_2474fs
1 paper
NM_001034853.2
p.K823_G824delFs
c.2468_2472del5
1 paper
NM_001034853.2
p.E828G
c.2483A>G
1 paper
NM_001034853.2
p.E828delFs
c.2483delT
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