Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Q717fs

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.Q717fs
c.2149_2150fs
Surrounding Variants
3 papers
NM_001034853.2
p.Q717*
c.2149C>T
2 papers
NM_001034853.2
p.E716*
c.2146G>T
2 papers
NM_001034853.2
p.E716fs
c.2146_2147fs
1 paper
NM_001034853.2
p.G718fs
c.2152_2153fs
2 papers
NM_001034853.2
p.R715insFs
c.2143_2144dupAG
1 paper
NM_001034853.2
p.R715insFs
c.2144_2145ins5
1 paper
NM_001034853.2
p.G718fs
c.2152_2153fs
2 papers
NM_001034853.2
p.G718delFs
c.2153delC
2 papers
NM_001034853.2
p.H719fs
c.2155_2156fs
1 paper
NM_001034853.2
p.R715fs
c.2143_2144fs
1 paper
NM_001034853.2
p.H719insFs
c.2155dupC
1 paper
NM_001034853.2
p.H719delFs
c.2155delG
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