Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Q670delFs

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.Q670delFs
c.2010delT
Surrounding Variants
1 paper
NM_001034853.2
p.D671fs
c.2011_2012fs
1 paper
NM_001034853.2
p.Q670*
c.2008C>T
2 papers
NM_001034853.2
p.Q670fs
c.2008_2009fs
6 papers
NM_001034853.2
p.W669*
c.2007G>A
1 paper
NM_001034853.2
p.E672insFs
c.2015dupA
6 papers
NM_001034853.2
p.W669*
c.2006G>A
3 papers
NM_001034853.2
p.Q670_E673delFs
c.2008_2017del10
1 paper
NM_001034853.2
p.E673D
c.2019G>T
1 paper
NM_001034853.2
p.E673D
c.2019G>C
3 papers
NM_001034853.2
p.H668insFs
c.2002dupC
1 paper
NM_001034853.2
p.H668delFs
c.2002delG
1 paper
NM_001034853.2
p.H668fs
c.2002_2003fs
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