Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G990fs

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
2 papers
NM_001034853.2
p.G990fs
c.2968_2969fs
Surrounding Variants
2 papers
NM_001034853.2
p.E987_G990insFs
c.2961_2968dup8
3 papers
NM_001034853.2
p.E989delFs
c.2966delT
5 papers
NM_001034853.2
p.G988_E989delFs
c.2964_2965delCC
3 papers
NM_001034853.2
p.E989*
c.2965G>T
1 paper
NM_001034853.2
p.E991*
c.2971G>T
1 paper
NM_001034853.2
p.E991Q
c.2971G>C
2 papers
NM_001034853.2
p.E982_G988delFs
c.2945_2964del20
4 papers
NM_001034853.2
p.E989fs
c.2965_2966fs
1 paper
NM_001034853.2
p.G988W
c.2962G>T
1 paper
NM_001034853.2
p.E980_E987insFs
c.2938_2959dup22
3 papers
NM_001034853.2
p.E987*
c.2959G>T
2 papers
NM_001034853.2
p.E993*
c.2977G>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."