Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E922delFs

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.E922delFs
c.2764delC
Surrounding Variants
1 paper
NM_001034853.2
p.E922G
c.2765A>G
4 papers
NM_001034853.2
p.G921_E922delFs
c.2763_2764delCC
2 papers
NM_001034853.2
p.E922fs
c.2764_2765fs
10 papers
NM_001034853.2
p.E922fs
c.2764_2765fs
4 papers
NM_001034853.2
p.K920_G921delFs
c.2760_2761delCT
1 paper
NM_001034853.2
p.E923E
c.2769G>A
1 paper
NM_001034853.2
p.K920insFs
c.2759_2760insT
1 paper
NM_001034853.2
p.K920E
c.2758A>G
1 paper
NM_001034853.2
p.E909_G919ins3
c.2725_2757dup33
1 paper
NM_001034853.2
p.G919delFs
c.2757delC
2 papers
NM_001034853.2
p.E926fs
c.2776_2777fs
1 paper
NM_001034853.2
p.E916_E918delFs
c.2746_2752del7
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