Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E635_D636Splc

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_000328.3
p.E635_D636Splc
c.1905+1G>A
Surrounding Variants
3 papers
NM_001034853.2
p.E635_V636del2
c.1903_1907del6
2 papers
NM_001034853.2
p.S637N
c.1910G>A
2 papers
NM_001034853.2
p.D632_K633delFs
c.1894_1897del4
1 paper
NM_001034853.2
p.D632insFs
c.1895_1896insA
2 papers
NM_001034853.2
p.D632fs
c.1894_1895fs
2 papers
NM_001034853.2
p.D629_G639del11
c.1885_1916del33
1 paper
NM_001034853.2
p.G639_K640del2
c.1915_1919del6
4 papers
NM_001034853.2
p.K642insFs
c.1926dupA
1 paper
NM_001034853.2
p.D629N
c.1885G>A
3 papers
NM_001034853.2
p.S643fs
c.1927_1928fs
4 papers
NM_001034853.2
p.S643*
c.1928C>G
4 papers
NM_001034853.2
p.S643*
c.1928C>A
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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."