Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G52Splc

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
6 papers
NM_001034853.2
p.G52Splc
c.155-2A>G
Surrounding Variants
12 papers
NM_001034853.2
p.G52*
c.154G>T
17 papers
NM_001034853.2
p.G52R
c.154G>C
21 papers
NM_001034853.2
p.G52R
c.154G>A
1 paper
NM_001034853.2
p.G52Splc
c.155-3C>A
1 paper
NM_001034853.2
p.G52G
c.156A>T
1 paper
NM_001034853.2
p.N53I
c.158A>T
1 paper
NM_001034853.2
p.N54insFs
c.160_161insCT
2 papers
NM_001034853.2
p.N54delFs
c.160delT
1 paper
NM_001034853.2
p.N53_N54ins1
c.159_160insTAA
3 papers
NM_001034853.2
p.Y57D
c.169T>G
2 papers
NM_001034853.2
p.Y57fs
c.169_170fs
3 papers
NM_001034853.2
p.L56_Y57delFs
c.168_169delAA
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