Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1014fs

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.E1014fs
c.3040_3041fs
Surrounding Variants
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.E1014*
c.3040G>T
8 papers
NM_001034853.2
p.E1014fs
c.3040_3041fs
2 papers
NM_001034853.2
p.G1011_E1015del0
c.3032_3043del12
2 papers
NM_001034853.2
p.G1003_G1013del0
c.3009_3038del30
1 paper
NM_001034853.2
p.E1015E
c.3045A>G
1 paper
NM_001034853.2
p.G1013E
c.3038G>A
1 paper
NM_001034853.2
p.E1015delFs
c.3045delT
1 paper
NM_001034853.2
p.G1013R
c.3037G>C
1 paper
NM_001034853.2
p.G1013R
c.3037G>A
1 paper
NM_001034853.2
p.E1017*
c.3049G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."