Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.W702*

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.W702*
c.2105G>A
Surrounding Variants
1 paper
NM_001034853.2
p.W702*
c.2106G>A
2 papers
NM_001034853.2
p.E700_E701delFs
c.2098_2101del4
1 paper
NM_001034853.2
p.A697_K699del3
c.2089_2096del9
2 papers
NM_001034853.2
p.E700fs
c.2098_2099fs
1 paper
NM_001034853.2
p.R705fs
c.2113_2114fs
1 paper
NM_001034853.2
p.K703_K704insFs
c.2109_2112dup4
1 paper
NM_001034853.2
p.R705S
c.2115G>T
1 paper
NM_001034853.2
p.R705S
c.2115G>C
1 paper
NM_001034853.2
p.E698*
c.2092G>T
3 papers
NM_001034853.2
p.A697_E698insFs
c.2091_2092insA
1 paper
NM_001034853.2
p.E698fs
c.2092_2093fs
1 paper
NM_001034853.2
p.G707R
c.2119G>C
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