Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E940_G946insFs

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.E940_G946insFs
c.2819_2837dup19
Surrounding Variants
1 paper
NM_001034853.2
p.E940_G946insFs
c.2819_2838dup20
1 paper
NM_001034853.2
p.E947_G948insG
c.2839_2843ins3
2 papers
NM_001034853.2
p.E947fs
c.2839_2840fs
1 paper
NM_001034853.2
p.G946insFs
c.2838dupG
1 paper
NM_001034853.2
p.E947ins7
c.2840_2841ins21
3 papers
NM_001034853.2
p.G946_E947delFs
c.2838_2839delCC
1 paper
NM_001034853.2
p.E947fs
c.2839_2840fs
2 papers
NM_001034853.2
p.E947insFs
c.2840dupA
4 papers
NM_001034853.2
p.E940_E947ins2
c.2820_2840dup21
1 paper
NM_001034853.2
p.E947E
c.2841G>A
2 papers
NM_001034853.2
p.E947delFs
c.2840delT
2 papers
NM_001034853.2
p.E940_E947insFs
c.2820_2841dup22
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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."