Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E769*

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.E769*
c.2305G>T
Surrounding Variants
2 papers
NM_001034853.2
p.E769K
c.2305G>A
1 paper
NM_001034853.2
p.R768H
c.2303G>A
2 papers
NM_001034853.2
p.K770fs
c.2308_2309fs
1 paper
NM_001034853.2
p.R768C
c.2302C>T
2 papers
NM_001034853.2
p.E763_E767del5
c.2287_2300del15
1 paper
NM_001034853.2
p.E767fs
c.2299_2300fs
2 papers
NM_001034853.2
p.K770delFs
c.2309delT
7 papers
NM_001034853.2
p.E767delFs
c.2299delC
4 papers
NM_001034853.2
p.G766_E767delFs
c.2296_2299del4
7 papers
NM_001034853.2
p.E771fs
c.2311_2312fs
6 papers
NM_001034853.2
p.E767fs
c.2299_2300fs
10 papers
NM_001034853.2
p.E771delFs
c.2311delC
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