Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1017*

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
1 paper
NM_001034853.2
p.E1017*
c.3049G>T
Surrounding Variants
2 papers
NM_001034853.2
p.E1017fs
c.3049_3050fs
1 paper
NM_001034853.2
p.E1017fs
c.3049_3050fs
1 paper
NM_001034853.2
p.E1017E
c.3051G>A
2 papers
NM_001034853.2
p.E1017delFs
c.3050_3051delCT
1 paper
NM_001034853.2
p.E1015delFs
c.3045delT
1 paper
NM_001034853.2
p.E1015E
c.3045A>G
2 papers
NM_001034853.2
p.G1011_E1015del0
c.3032_3043del12
2 papers
NM_001034853.2
p.E1014fs
c.3040_3041fs
2 papers
NM_001034853.2
p.E1014delFs
c.3040delC
9 papers
NM_001034853.2
p.G1013_E1014delFs
c.3039_3040delCC
1 paper
NM_001034853.2
p.E1020*
c.3058G>T
1 paper
NM_001034853.2
p.E1014*
c.3040G>T
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