Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E652_T658insFs

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.E652_T658insFs
c.1955_1974dup20
Surrounding Variants
1 paper
NM_001034853.2
p.E660*
c.1978G>T
1 paper
NM_001034853.2
p.E660K
c.1978G>A
2 papers
NM_001034853.2
p.E660fs
c.1978_1979fs
2 papers
NM_001034853.2
p.E660insFs
c.1978dupG
1 paper
NM_001034853.2
p.A641_G657Fs
c.1923_1971delinsTCTGGGTAFs
1 paper
NM_001034853.2
p.E661*
c.1981G>T
3 papers
NM_001034853.2
p.D656delFs
c.1967delT
1 paper
NM_001034853.2
p.A641_G657Fs
c.1923_1969delinsTCTGGGFs
1 paper
NM_001034853.2
p.D656V
c.1967A>T
3 papers
NM_001034853.2
p.D656fs
c.1966_1967fs
1 paper
NM_001034853.2
p.R654K
c.1961G>A
2 papers
NM_001034853.2
p.E652_G653del2
c.1954_1958del6
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