Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G28insFs

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.G28insFs
c.82_83insA
Surrounding Variants
1 paper
NM_001034853.2
p.P27L
c.80C>T
1 paper
NM_001034853.2
p.N26_P27insFs
c.78_79insCA
1 paper
NM_001034853.2
p.K29R
c.86A>G
1 paper
NM_001034853.2
p.F30fs
c.88_89fs
2 papers
NM_001034853.2
p.F30delFs
c.89delA
1 paper
NM_001034853.2
p.N25S
c.74A>G
2 papers
NM_001034853.2
p.W31*
c.92G>A
2 papers
NM_001034853.2
p.W31*
c.93G>A
1 paper
NM_001034853.2
p.W31delFs
c.92delC
1 paper
NM_001034853.2
p.E24*
c.70G>T
2 papers
NM_001034853.2
p.A23delFs
c.69delA
2 papers
NM_001034853.2
p.E24fs
c.70_71fs
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