Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E888_E889del2

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
4 papers
NM_001034853.2
p.E888_E889del2
c.2662_2666del6
Surrounding Variants
1 paper
NM_001034853.2
p.G891V
c.2672G>T
1 paper
NM_001034853.2
p.E890del1
c.2668_2669delTTC
3 papers
NM_001034853.2
p.E889_E890del1
c.2667_2669delTCC
1 paper
NM_001034853.2
p.E888_E889insFs
c.2663_2667dup5
1 paper
NM_001034853.2
p.G893V
c.2678G>T
1 paper
NM_001034853.2
p.E889*
c.2665G>T
2 papers
NM_001034853.2
p.G891_E892del2
c.2671_2675del6
3 papers
NM_001034853.2
p.E894fs
c.2680_2681fs
2 papers
NM_001034853.2
p.G893_E894delFs
c.2679_2680delCC
1 paper
NM_001034853.2
p.G887_E888delFs
c.2659_2662del4
2 papers
NM_001034853.2
p.G895*
c.2683G>T
1 paper
NM_001034853.2
p.G887insFs
c.2660_2661ins8
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