Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.R674K

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.R674K
c.2021G>A
Surrounding Variants
3 papers
NM_001034853.2
p.E675*
c.2023G>T
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.Q670_E673delFs
c.2008_2017del10
1 paper
NM_001034853.2
p.E672insFs
c.2015dupA
2 papers
NM_001034853.2
p.K676fs
c.2026_2027fs
2 papers
NM_001034853.2
p.E673_R674del2
c.2017_2021del6
1 paper
NM_001034853.2
p.G677E
c.2030G>A
1 paper
NM_001034853.2
p.D671fs
c.2011_2012fs
2 papers
NM_001034853.2
p.Q670delFs
c.2010delT
7 papers
NM_001034853.2
p.E678*
c.2032G>T
1 paper
NM_001034853.2
p.Q670*
c.2008C>T
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