Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E872fs

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
5 papers
NM_001034853.2
p.E872fs
c.2614_2615fs
Surrounding Variants
2 papers
NM_001034853.2
p.E872*
c.2614G>T
3 papers
NM_001034853.2
p.E872_E873insA
c.2614_2618ins3
1 paper
NM_001034853.2
p.E870_G871delFs
c.2609_2612del4
3 papers
NM_001034853.2
p.G871insFs
c.2611_2612insGG
2 papers
NM_001034853.2
p.G871_E872delFs
c.2613_2614delCC
3 papers
NM_001034853.2
p.E872delFs
c.2615_2616delCT
1 paper
NM_001034853.2
p.E868_E873insFs
c.2602_2617dup16
4 papers
NM_001034853.2
p.G874*
c.2620G>T
1 paper
NM_001034853.2
p.E870fs
c.2608_2609fs
1 paper
NM_001034853.2
p.E873_G874del1
c.2618_2620delCTT
2 papers
NM_001034853.2
p.E869_G874del0
c.2606_2620del15
3 papers
NM_001034853.2
p.E869G
c.2606A>G
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