Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Q793delFs

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.Q793delFs
c.2379delT
Surrounding Variants
2 papers
NM_001034853.2
p.G794fs
c.2380_2381fs
1 paper
NM_001034853.2
p.Q793delFs
c.2377_2378delTG
2 papers
NM_001034853.2
p.E795*
c.2383G>T
4 papers
NM_001034853.2
p.E795fs
c.2383_2384fs
1 paper
NM_001034853.2
p.Q793*
c.2377C>T
1 paper
NM_001034853.2
p.Q793fs
c.2377_2378fs
1 paper
NM_001034853.2
p.K786_D792delFs
c.2357_2375del19
2 papers
NM_001034853.2
p.E795fs
c.2383_2384fs
8 papers
NM_001034853.2
p.E795delFs
c.2384delT
1 paper
NM_001034853.2
p.R780_G791insFs
c.2340_2371dup32
2 papers
NM_001034853.2
p.E789_E790del2
c.2365_2369del6
1 paper
NM_001034853.2
p.G791fs
c.2371_2372fs
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