Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E915_G917ins1

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.E915_G917ins1
c.2745_2750dup6
Surrounding Variants
3 papers
NM_001034853.2
p.E918*
c.2752G>T
2 papers
NM_001034853.2
p.G917R
c.2749G>C
2 papers
NM_001034853.2
p.G917R
c.2749G>A
1 paper
NM_001034853.2
p.E916_E918delFs
c.2746_2752del7
1 paper
NM_001034853.2
p.E915ins8
c.2744_2745ins24
1 paper
NM_001034853.2
p.E916fs
c.2746_2747fs
1 paper
NM_001034853.2
p.E907_E915ins3
c.2721_2744dup24
1 paper
NM_001034853.2
p.E907_E915del0
c.2721_2744del24
1 paper
NM_001034853.2
p.K920E
c.2758A>G
1 paper
NM_001034853.2
p.E909_G919ins3
c.2725_2757dup33
1 paper
NM_001034853.2
p.E915ins8
c.2744_2745ins24
1 paper
NM_001034853.2
p.G919delFs
c.2757delC
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