Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1031delFs

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
24 papers
NM_001034853.2
p.E1031delFs
c.3092delT
Surrounding Variants
3 papers
NM_001034853.2
p.E1031fs
c.3091_3092fs
8 papers
NM_001034853.2
p.E1031delFs
c.3092_3093delCT
2 papers
NM_001034853.2
p.E1031G
c.3092A>G
1 paper
NM_001034853.2
p.G1032E
c.3095G>A
19 papers
NM_001034853.2
p.E1031fs
c.3091_3092fs
2 papers
NM_001034853.2
p.E1033Q
c.3097G>C
7 papers
NM_001034853.2
p.E1033fs
c.3097_3098fs
1 paper
NM_001034853.2
p.G1030R
c.3088G>C
1 paper
NM_001034853.2
p.G1030R
c.3088G>A
1 paper
NM_001034853.2
p.E1033delFs
c.3097delC
9 papers
NM_001034853.2
p.G1032_E1033delFs
c.3096_3097delCC
1 paper
NM_001034853.2
p.E1033fs
c.3097_3098fs
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