Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.N62insFs

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.N62insFs
c.185_186ins5
Surrounding Variants
1 paper
NM_001034853.2
p.N62S
c.185A>G
1 paper
NM_001034853.2
p.W64*
c.191G>A
1 paper
NM_001034853.2
p.G60_S61insFs
c.180_181insC
1 paper
NM_001034853.2
p.W64fs
c.190_191fs
1 paper
NM_001034853.2
p.W64*
c.192G>A
1 paper
NM_001034853.2
p.G65fs
c.193_194fs
16 papers
NM_001034853.2
p.G60V
c.179G>T
1 paper
NM_001034853.2
p.G60A
c.179G>C
5 papers
NM_001034853.2
p.G65V
c.194G>T
7 papers
NM_001034853.2
p.G65D
c.194G>A
1 paper
NM_001034853.2
p.G60S
c.178G>A
1 paper
NM_001034853.2
p.M58_F59del1
c.173_175delACA
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