Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.D629N

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.D629N
c.1885G>A
Surrounding Variants
1 paper
NM_001034853.2
p.D628fs
c.1882_1883fs
1 paper
NM_001034853.2
p.S627insFs
c.1881dupA
2 papers
NM_001034853.2
p.S627L
c.1880C>T
1 paper
NM_001034853.2
p.S627*
c.1880C>G
1 paper
NM_001034853.2
p.S627*
c.1880C>A
2 papers
NM_001034853.2
p.D632fs
c.1894_1895fs
5 papers
NM_001034853.2
p.E624_I625delFs
c.1872_1873delTC
1 paper
NM_001034853.2
p.D632insFs
c.1895_1896insA
2 papers
NM_001034853.2
p.D632_K633delFs
c.1894_1897del4
1 paper
NM_001034853.2
p.E624A
c.1871A>C
1 paper
NM_001034853.2
p.E624*
c.1870G>T
5 papers
NM_001034853.2
p.E624fs
c.1870_1871fs
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."