Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E774fs

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.E774fs
c.2320_2321fs
Surrounding Variants
11 papers
NM_001034853.2
p.R775fs
c.2323_2324fs
1 paper
NM_001034853.2
p.E774delFs
c.2322delC
1 paper
NM_001034853.2
p.E771_G773del3
c.2311_2318del9
1 paper
NM_001034853.2
p.E774K
c.2320G>A
4 papers
NM_001034853.2
p.E774fs
c.2320_2321fs
2 papers
NM_001034853.2
p.R775fs
c.2323_2324fs
13 papers
NM_001034853.2
p.R775delFs
c.2323_2324delCT
1 paper
NM_001034853.2
p.E774_R775delFs
c.2321_2324del4
1 paper
NM_001034853.2
p.R775delFs
c.2324_2325delCC
2 papers
NM_001034853.2
p.K777fs
c.2329_2330fs
1 paper
NM_001034853.2
p.E771_E772delFs
c.2311_2314del4
2 papers
NM_001034853.2
p.E771_E772Fs
c.2313_2314delinsCFs
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