Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G782fs

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.G782fs
c.2344_2345fs
Surrounding Variants
1 paper
NM_001034853.2
p.A781V
c.2342C>T
9 papers
NM_001034853.2
p.R780_A781delFs
c.2340_2341delCT
4 papers
NM_001034853.2
p.A781T
c.2341G>A
2 papers
NM_001034853.2
p.A781fs
c.2341_2342fs
2 papers
NM_001034853.2
p.R780delFs
c.2340delT
3 papers
NM_001034853.2
p.R780fs
c.2338_2339fs
2 papers
NM_001034853.2
p.E774_K783delFs
c.2321_2348del28
4 papers
NM_001034853.2
p.R780fs
c.2338_2339fs
1 paper
NM_001034853.2
p.E779del1
c.2335_2336delTTC
1 paper
NM_001034853.2
p.E778_E779del1
c.2334_2336delTCC
1 paper
NM_001034853.2
p.E778delFs
c.2333delT
3 papers
NM_001034853.2
p.K777delFs
c.2330_2331delCT
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