Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.S664*

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
3 papers
NM_001034853.2
p.S664*
c.1991C>G
Surrounding Variants
3 papers
NM_001034853.2
p.S664*
c.1991C>A
1 paper
NM_001034853.2
p.G665V
c.1994G>T
1 paper
NM_001034853.2
p.E661*
c.1981G>T
1 paper
NM_001034853.2
p.H668fs
c.2002_2003fs
2 papers
NM_001034853.2
p.E660insFs
c.1978dupG
3 papers
NM_001034853.2
p.H668insFs
c.2002dupC
1 paper
NM_001034853.2
p.H668delFs
c.2002delG
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
6 papers
NM_001034853.2
p.W669*
c.2006G>A
1 paper
NM_001034853.2
p.E652_T658insFs
c.1955_1974dup20
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