Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E774_K783delFs

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
2 papers
NM_001034853.2
p.E774_K783delFs
c.2321_2348del28
Surrounding Variants
1 paper
NM_001034853.2
p.G782fs
c.2344_2345fs
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
1 paper
NM_001034853.2
p.K786T
c.2357A>C
1 paper
NM_001034853.2
p.K786insFs
c.2357_2358ins8
3 papers
NM_001034853.2
p.R780fs
c.2338_2339fs
1 paper
NM_001034853.2
p.K786fs
c.2356_2357fs
2 papers
NM_001034853.2
p.G787*
c.2359G>T
4 papers
NM_001034853.2
p.R780fs
c.2338_2339fs
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