Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E868fs

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.E868fs
c.2602_2603fs
Surrounding Variants
1 paper
NM_001034853.2
p.E868delFs
c.2602delC
2 papers
NM_001034853.2
p.G867_E868delFs
c.2601_2602delCC
3 papers
NM_001034853.2
p.E869G
c.2606A>G
1 paper
NM_001034853.2
p.E866delFs
c.2596delC
4 papers
NM_001034853.2
p.G865_E866del1
c.2594_2596delCTC
1 paper
NM_001034853.2
p.E870fs
c.2608_2609fs
1 paper
NM_001034853.2
p.E866fs
c.2596_2597fs
2 papers
NM_001034853.2
p.E864insFs
c.2592dupA
1 paper
NM_001034853.2
p.G865fs
c.2593_2594fs
1 paper
NM_001034853.2
p.E870_G871delFs
c.2609_2612del4
3 papers
NM_001034853.2
p.E864*
c.2590G>T
2 papers
NM_001034853.2
p.E872*
c.2614G>T
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