Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.M58K

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
2 papers
NM_001034853.2
p.M58K
c.173T>A
Surrounding Variants
1 paper
NM_001034853.2
p.M58insFs
c.173_174insA
1 paper
NM_001034853.2
p.M58fs
c.172_173fs
1 paper
NM_001034853.2
p.M58fs
c.172_173fs
3 papers
NM_001034853.2
p.L56_Y57delFs
c.168_169delAA
3 papers
NM_001034853.2
p.Y57D
c.169T>G
1 paper
NM_001034853.2
p.M58_F59del1
c.173_175delACA
2 papers
NM_001034853.2
p.Y57fs
c.169_170fs
1 paper
NM_001034853.2
p.G60S
c.178G>A
16 papers
NM_001034853.2
p.G60V
c.179G>T
1 paper
NM_001034853.2
p.G60A
c.179G>C
1 paper
NM_001034853.2
p.G60_S61insFs
c.180_181insC
1 paper
NM_001034853.2
p.N53_N54ins1
c.159_160insTAA
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