Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E884*

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
8 papers
NM_001034853.2
p.E884*
c.2650G>T
Surrounding Variants
1 paper
NM_001034853.2
p.E882del1
c.2644_2645delTTC
1 paper
NM_001034853.2
p.E881_E882del1
c.2643_2645delTCC
2 papers
NM_001034853.2
p.E875_E881delFs
c.2624_2643del20
2 papers
NM_001034853.2
p.E886fs
c.2656_2657fs
3 papers
NM_001034853.2
p.G885_E886delFs
c.2655_2656delCC
1 paper
NM_001034853.2
p.E881G
c.2642A>G
1 paper
NM_001034853.2
p.E881*
c.2641G>T
1 paper
NM_001034853.2
p.G887fs
c.2659_2660fs
1 paper
NM_001034853.2
p.E880G
c.2639A>G
1 paper
NM_001034853.2
p.G887insFs
c.2660_2661ins8
1 paper
NM_001034853.2
p.G887ins16
c.2660_2661ins48
1 paper
NM_001034853.2
p.G887_E888delFs
c.2659_2662del4
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