Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G966_E967delFs

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.G966_E967delFs
c.2898_2899delCC
Surrounding Variants
1 paper
NM_001034853.2
p.E967insFs
c.2899dupG
7 papers
NM_001034853.2
p.E967delFs
c.2899delC
1 paper
NM_001034853.2
p.E967*
c.2899G>T
7 papers
NM_001034853.2
p.E967fs
c.2899_2900fs
2 papers
NM_001034853.2
p.E967_E968delFs
c.2899_2902del4
1 paper
NM_001034853.2
p.E965fs
c.2893_2894fs
1 paper
NM_001034853.2
p.E965E
c.2895G>A
6 papers
NM_001034853.2
p.E965delFs
c.2894delT
1 paper
NM_001034853.2
p.E965delFs
c.2893delC
3 papers
NM_001034853.2
p.G964_E965delFs
c.2892_2893delCC
4 papers
NM_001034853.2
p.E965*
c.2893G>T
5 papers
NM_001034853.2
p.E965fs
c.2893_2894fs
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