Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E799*

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.E799*
c.2395G>T
Surrounding Variants
1 paper
NM_001034853.2
p.E797delFs
c.2390delT
1 paper
NM_001034853.2
p.E800fs
c.2398_2399fs
2 papers
NM_001034853.2
p.E797fs
c.2389_2390fs
1 paper
NM_001034853.2
p.E800delFs
c.2398delC
4 papers
NM_001034853.2
p.E797insFs
c.2389dupG
1 paper
NM_001034853.2
p.E797delFs
c.2389delC
2 papers
NM_001034853.2
p.T801_E802insG
c.2401_2405ins3
2 papers
NM_001034853.2
p.E797fs
c.2389_2390fs
1 paper
NM_001034853.2
p.E800_T801delFs
c.2400_2401delTT
1 paper
NM_001034853.2
p.T801delFs
c.2402delG
48 papers
NM_001034853.2
p.E802fs
c.2404_2405fs
2 papers
NM_001034853.2
p.E795fs
c.2383_2384fs
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