Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E762_E763delFs

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.E762_E763delFs
c.2285_2289del5
Surrounding Variants
4 papers
NM_001034853.2
p.E765*
c.2293G>T
1 paper
NM_001034853.2
p.E763*
c.2287G>T
4 papers
NM_001034853.2
p.E765fs
c.2293_2294fs
2 papers
NM_001034853.2
p.E765delFs
c.2293delC
1 paper
NM_001034853.2
p.E762delFs
c.2284delC
1 paper
NM_001034853.2
p.G761_E762delFs
c.2283_2284delCC
1 paper
NM_001034853.2
p.G766*
c.2296G>T
1 paper
NM_001034853.2
p.E762*
c.2284G>T
3 papers
NM_001034853.2
p.G766fs
c.2296_2297fs
2 papers
NM_001034853.2
p.E762fs
c.2284_2285fs
1 paper
NM_001034853.2
p.V764_E765del2
c.2290_2294del6
3 papers
NM_001034853.2
p.E765_G766delFs
c.2293_2297del5
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