Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E806fs

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.E806fs
c.2416_2417fs
Surrounding Variants
1 paper
NM_001034853.2
p.E806*
c.2416G>T
1 paper
NM_001034853.2
p.E806K
c.2416G>A
1 paper
NM_001034853.2
p.G805fs
c.2413_2414fs
1 paper
NM_001034853.2
p.E806insFs
c.2417_2418insG
1 paper
NM_001034853.2
p.E806delFs
c.2416delC
1 paper
NM_001034853.2
p.E806fs
c.2416_2417fs
1 paper
NM_001034853.2
p.R804_G805delFs
c.2412_2413delCT
1 paper
NM_001034853.2
p.E807*
c.2419G>T
4 papers
NM_001034853.2
p.G805fs
c.2413_2414fs
4 papers
NM_001034853.2
p.R804_E806delFs
c.2412_2418del7
3 papers
NM_001034853.2
p.E807fs
c.2419_2420fs
1 paper
NM_001034853.2
p.E807insFs
c.2419dupG
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