Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E906*

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
2 papers
NM_001034853.2
p.E906*
c.2716G>T
Surrounding Variants
1 paper
NM_001034853.2
p.E906fs
c.2716_2717fs
5 papers
NM_001034853.2
p.E905delFs
c.2714_2715delTT
2 papers
NM_001034853.2
p.E899_E905delFs
c.2696_2715del20
1 paper
NM_001034853.2
p.E905_E906insFs
c.2715_2716ins4
2 papers
NM_001034853.2
p.E905fs
c.2713_2714fs
1 paper
NM_001034853.2
p.E907*
c.2719G>T
1 paper
NM_001034853.2
p.E905_E906delFs
c.2714_2718del5
2 papers
NM_001034853.2
p.E905fs
c.2713_2714fs
1 paper
NM_001034853.2
p.G902_E903del2
c.2704_2708del6
1 paper
NM_001034853.2
p.E903fs
c.2707_2708fs
1 paper
NM_001034853.2
p.G908E
c.2723G>A
1 paper
NM_001034853.2
p.E906_E907del2
c.2716_2720del6
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