Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E852fs

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.E852fs
c.2554_2555fs
Surrounding Variants
5 papers
NM_001034853.2
p.E853*
c.2557G>T
2 papers
NM_001034853.2
p.E852insFs
c.2554dupG
1 paper
NM_001034853.2
p.E852insFs
c.2554_2555insC
2 papers
NM_001034853.2
p.E852fs
c.2554_2555fs
1 paper
NM_001034853.2
p.E852_E853delFs
c.2554_2557del4
1 paper
NM_001034853.2
p.E850fs
c.2548_2549fs
4 papers
NM_001034853.2
p.G847_G854del0
c.2541_2561del21
2 papers
NM_001034853.2
p.E848_G849del2
c.2542_2546del6
1 paper
NM_001034853.2
p.E855*
c.2563G>T
1 paper
NM_001034853.2
p.G854delFs
c.2562delT
3 papers
NM_001034853.2
p.E850delFs
c.2548delC
1 paper
NM_001034853.2
p.E850*
c.2548G>T
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