Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Q710fs

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.Q710fs
c.2128_2129fs
Surrounding Variants
1 paper
NM_001034853.2
p.Q710*
c.2128C>T
1 paper
NM_001034853.2
p.E709D
c.2127G>T
1 paper
NM_001034853.2
p.E709D
c.2127G>C
1 paper
NM_001034853.2
p.Q710Q
c.2130G>A
1 paper
NM_001034853.2
p.Q710delFs
c.2129delT
1 paper
NM_001034853.2
p.E709*
c.2125G>T
1 paper
NM_001034853.2
p.E711K
c.2131G>A
2 papers
NM_001034853.2
p.E708G
c.2123A>G
1 paper
NM_001034853.2
p.E708*
c.2122G>T
1 paper
NM_001034853.2
p.Q712R
c.2135A>G
1 paper
NM_001034853.2
p.G707R
c.2119G>C
1 paper
NM_001034853.2
p.G707R
c.2119G>A
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