Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E746delFs

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
61 papers
NM_001034853.2
p.E746delFs
c.2236_2237delTC
Surrounding Variants
12 papers
NM_001034853.2
p.E746fs
c.2236_2237fs
13 papers
NM_001034853.2
p.R745_E746delFs
c.2234_2237del4
1 paper
NM_001034853.2
p.E747_E748insTG
c.2239_2243ins6
2 papers
NM_001034853.2
p.E746delFs
c.2238delT
2 papers
NM_001034853.2
p.E747fs
c.2239_2240fs
3 papers
NM_001034853.2
p.E746delFs
c.2237_2238delTT
2 papers
NM_001034853.2
p.R745_E746delFs
c.2235_2238del4
1 paper
NM_001034853.2
p.E746delFs
c.2236delC
1 paper
NM_001034853.2
p.E746Q
c.2236G>C
6 papers
NM_001034853.2
p.D744_R745delFs
c.2232_2235del4
1 paper
NM_001034853.2
p.E746_E747delFs
c.2236_2239del4
28 papers
NM_001034853.2
p.E746fs
c.2236_2237fs
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