Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E914*

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.E914*
c.2740G>T
Surrounding Variants
1 paper
NM_001034853.2
p.E915*
c.2743G>T
1 paper
NM_001034853.2
p.E915_E916insTGT
c.2743_2747ins9
1 paper
NM_001034853.2
p.E915K
c.2743G>A
1 paper
NM_001034853.2
p.E915ins8
c.2744_2745ins24
1 paper
NM_001034853.2
p.G912_E914del3
c.2734_2741del9
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.E916fs
c.2746_2747fs
1 paper
NM_001034853.2
p.E915ins8
c.2744_2745ins24
7 papers
NM_001034853.2
p.G910_E911delFs
c.2730_2731delCC
1 paper
NM_001034853.2
p.E911*
c.2731G>T
2 papers
NM_001034853.2
p.G917R
c.2749G>C
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