Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.S643fs

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.S643fs
c.1927_1928fs
Surrounding Variants
4 papers
NM_001034853.2
p.K642insFs
c.1926dupA
4 papers
NM_001034853.2
p.S643*
c.1928C>G
4 papers
NM_001034853.2
p.S643*
c.1928C>A
1 paper
NM_001034853.2
p.V644M
c.1930G>A
1 paper
NM_001034853.2
p.G639_K640del2
c.1915_1919del6
1 paper
NM_001034853.2
p.G645*
c.1933G>T
2 papers
NM_001034853.2
p.G645insFs
c.1933_1934insC
1 paper
NM_001034853.2
p.G645R
c.1933G>C
1 paper
NM_001034853.2
p.G645R
c.1933G>A
1 paper
NM_001034853.2
p.G645fs
c.1933_1934fs
1 paper
NM_001034853.2
p.G645fs
c.1933_1934fs
1 paper
NM_001034853.2
p.E646*
c.1936G>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."