Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G43insFs

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.G43insFs
c.128dupG
Surrounding Variants
1 paper
NM_001034853.2
p.D44fs
c.130_131fs
8 papers
NM_001034853.2
p.G43E
c.128G>A
6 papers
NM_001034853.2
p.G43R
c.127G>C
5 papers
NM_001034853.2
p.G43R
c.127G>A
2 papers
NM_001034853.2
p.C42W
c.126T>G
1 paper
NM_001034853.2
p.C42Y
c.125G>A
1 paper
NM_001034853.2
p.C42G
c.124T>G
1 paper
NM_001034853.2
p.C42R
c.124T>C
1 paper
NM_001034853.2
p.E45V
c.134A>T
1 paper
NM_001034853.2
p.S41insFs
c.122dupC
1 paper
NM_001034853.2
p.H46Y
c.136C>T
5 papers
NM_001034853.2
p.S41*
c.122C>G
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