Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G60A

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.G60A
c.179G>C
Surrounding Variants
16 papers
NM_001034853.2
p.G60V
c.179G>T
1 paper
NM_001034853.2
p.G60S
c.178G>A
1 paper
NM_001034853.2
p.M58_F59del1
c.173_175delACA
1 paper
NM_001034853.2
p.G60_S61insFs
c.180_181insC
1 paper
NM_001034853.2
p.M58fs
c.172_173fs
1 paper
NM_001034853.2
p.M58insFs
c.173_174insA
2 papers
NM_001034853.2
p.M58K
c.173T>A
1 paper
NM_001034853.2
p.N62S
c.185A>G
1 paper
NM_001034853.2
p.M58fs
c.172_173fs
1 paper
NM_001034853.2
p.N62insFs
c.185_186ins5
3 papers
NM_001034853.2
p.L56_Y57delFs
c.168_169delAA
3 papers
NM_001034853.2
p.Y57D
c.169T>G
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