Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E993*

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.E993*
c.2977G>T
Surrounding Variants
1 paper
NM_001034853.2
p.E994*
c.2980G>T
1 paper
NM_001034853.2
p.E991*
c.2971G>T
1 paper
NM_001034853.2
p.E991Q
c.2971G>C
2 papers
NM_001034853.2
p.E987_G990insFs
c.2961_2968dup8
1 paper
NM_001034853.2
p.E996*
c.2986G>T
2 papers
NM_001034853.2
p.G990fs
c.2968_2969fs
2 papers
NM_001034853.2
p.E996fs
c.2986_2987fs
3 papers
NM_001034853.2
p.E989delFs
c.2966delT
2 papers
NM_001034853.2
p.G995_E996delFs
c.2985_2986delCC
5 papers
NM_001034853.2
p.G988_E989delFs
c.2964_2965delCC
3 papers
NM_001034853.2
p.E989*
c.2965G>T
2 papers
NM_001034853.2
p.E982_G988delFs
c.2945_2964del20
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