Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1054*

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
3 papers
NM_001034853.2
p.E1054*
c.3160G>T
Surrounding Variants
2 papers
NM_001034853.2
p.N1055fs
c.3163_3164fs
1 paper
NM_001034853.2
p.N1055I
c.3164A>T
1 paper
NM_001034853.2
p.N1055delFs
c.3164delT
1 paper
NM_001034853.2
p.N1055delFs
c.3163_3164delTT
2 papers
NM_001034853.2
p.R1056S
c.3168G>T
2 papers
NM_001034853.2
p.R1056S
c.3168G>C
2 papers
NM_001034853.2
p.R1056delFs
c.3166_3167delCT
1 paper
NM_001034853.2
p.E1049delFs
c.3147delC
1 paper
NM_001034853.2
p.E1049_G1050delFs
c.3146_3149del4
1 paper
NM_001034853.2
p.E1049delFs
c.3146_3147delCT
2 papers
NM_001034853.2
p.E1049delFs
c.3146delT
2 papers
NM_001034853.2
p.R1057del1
c.3169_3170delCCT
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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."