Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E863E

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.E863E
c.2589A>G
Surrounding Variants
1 paper
NM_001034853.2
p.E863fs
c.2587_2588fs
3 papers
NM_001034853.2
p.E864*
c.2590G>T
4 papers
NM_001034853.2
p.G862_E863delFs
c.2586_2587delCC
2 papers
NM_001034853.2
p.E863*
c.2587G>T
2 papers
NM_001034853.2
p.E863fs
c.2587_2588fs
2 papers
NM_001034853.2
p.E864insFs
c.2592dupA
1 paper
NM_001034853.2
p.G865fs
c.2593_2594fs
1 paper
NM_001034853.2
p.E861delFs
c.2581delC
1 paper
NM_001034853.2
p.E866fs
c.2596_2597fs
1 paper
NM_001034853.2
p.E866delFs
c.2596delC
4 papers
NM_001034853.2
p.G865_E866del1
c.2594_2596delCTC
2 papers
NM_001034853.2
p.E868fs
c.2602_2603fs
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