Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Q725*

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
4 papers
NM_001034853.2
p.Q725*
c.2173C>T
Surrounding Variants
1 paper
NM_001034853.2
p.Q725fs
c.2173_2174fs
2 papers
NM_001034853.2
p.N724delFs
c.2171delT
2 papers
NM_001034853.2
p.R723_N724delFs
c.2168_2171del4
3 papers
NM_001034853.2
p.E726*
c.2176G>T
2 papers
NM_001034853.2
p.N724fs
c.2170_2171fs
1 paper
NM_001034853.2
p.E722_R723delFs
c.2164_2168del5
1 paper
NM_001034853.2
p.E726D
c.2178G>T
1 paper
NM_001034853.2
p.E726D
c.2178G>C
1 paper
NM_001034853.2
p.R723K
c.2168G>A
1 paper
NM_001034853.2
p.R723delFs
c.2167delT
3 papers
NM_001034853.2
p.R723fs
c.2167_2168fs
2 papers
NM_001034853.2
p.M727K
c.2180T>A
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