Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K33N

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.K33N
c.99A>T
Surrounding Variants
4 papers
NM_001034853.2
p.N34fs
c.100_101fs
1 paper
NM_001034853.2
p.N34insFs
c.101_102insA
5 papers
NM_001034853.2
p.N34delFs
c.101delT
1 paper
NM_001034853.2
p.D35Y
c.103G>T
1 paper
NM_001034853.2
p.D35N
c.103G>A
1 paper
NM_001034853.2
p.W31delFs
c.92delC
2 papers
NM_001034853.2
p.W31*
c.93G>A
7 papers
NM_001034853.2
p.V36F
c.106G>T
2 papers
NM_001034853.2
p.W31*
c.92G>A
3 papers
NM_001034853.2
p.V36V
c.108C>G
2 papers
NM_001034853.2
p.F30delFs
c.89delA
1 paper
NM_001034853.2
p.P37S
c.109C>T
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