Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E832del1

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.E832del1
c.2494_2495delCTC
Surrounding Variants
2 papers
NM_001034853.2
p.E832_G833insFs
c.2496_2497insG
1 paper
NM_001034853.2
p.G833G
c.2499T>G
2 papers
NM_001034853.2
p.E828_E832delFs
c.2483_2496del14
1 paper
NM_001034853.2
p.G833delFs
c.2499delA
8 papers
NM_001034853.2
p.E834fs
c.2500_2501fs
2 papers
NM_001034853.2
p.G833_E834insFs
c.2499_2500dupTG
1 paper
NM_001034853.2
p.E831_E832delFs
c.2493_2494delCC
2 papers
NM_001034853.2
p.E832*
c.2494G>T
1 paper
NM_001034853.2
p.E834fs
c.2500_2501fs
7 papers
NM_001034853.2
p.E834delFs
c.2501delT
1 paper
NM_001034853.2
p.E832fs
c.2494_2495fs
3 papers
NM_001034853.2
p.E834delFs
c.2501_2502delCT
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