Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E875fs

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.E875fs
c.2623_2624fs
Surrounding Variants
1 paper
NM_001034853.2
p.E873_G874del1
c.2618_2620delCTT
2 papers
NM_001034853.2
p.E869_G874del0
c.2606_2620del15
4 papers
NM_001034853.2
p.G874*
c.2620G>T
10 papers
NM_001034853.2
p.E875insFs
c.2625dupA
2 papers
NM_001034853.2
p.G876R
c.2626G>C
2 papers
NM_001034853.2
p.G876R
c.2626G>A
4 papers
NM_001034853.2
p.G876fs
c.2626_2627fs
1 paper
NM_001034853.2
p.E873_G874del2
c.2617_2621del6
1 paper
NM_001034853.2
p.E868_E873insFs
c.2602_2617dup16
3 papers
NM_001034853.2
p.E872delFs
c.2615_2616delCT
6 papers
NM_001034853.2
p.E877fs
c.2629_2630fs
8 papers
NM_001034853.2
p.G876_E877delFs
c.2628_2629delCC
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