Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E947insFs

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.E947insFs
c.2840_2841ins5
Surrounding Variants
2 papers
NM_001034853.2
p.E947_G948delFs
c.2840_2844del5
1 paper
NM_001034853.2
p.E949fs
c.2845_2846fs
2 papers
NM_001034853.2
p.E949delFs
c.2845delC
2 papers
NM_001034853.2
p.E949D
c.2847A>T
1 paper
NM_001034853.2
p.E949E
c.2847A>G
2 papers
NM_001034853.2
p.E949D
c.2847A>C
3 papers
NM_001034853.2
p.E950*
c.2848G>T
2 papers
NM_001034853.2
p.E940_E947insFs
c.2820_2841dup22
3 papers
NM_001034853.2
p.E949_E950delins
c.2847_2848delinsCT
1 paper
NM_001034853.2
p.E950fs
c.2848_2849fs
1 paper
NM_001034853.2
p.E947fs
c.2839_2840fs
2 papers
NM_001034853.2
p.E947insFs
c.2840dupA
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