Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.H1100fs

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
3 papers
NM_001034853.2
p.H1100fs
c.3298_3299fs
Surrounding Variants
5 papers
NM_001034853.2
p.H1100_K1101delFs
c.3300_3301delTA
4 papers
NM_001034853.2
p.Y1103fs
c.3307_3308fs
1 paper
NM_001034853.2
p.K1101_T1102delFs
c.3302_3306del5
2 papers
NM_001034853.2
p.Y1103S
c.3308A>C
1 paper
NM_001034853.2
p.Y1103fs
c.3307_3308fs
1 paper
NM_001034853.2
p.Y1103insFs
c.3308dupA
1 paper
NM_001034853.2
p.Y1103*
c.3309T>G
1 paper
NM_001034853.2
p.Y1103*
c.3309T>A
1 paper
NM_001034853.2
p.K1096Fs
c.3286_3287delinsCFs
1 paper
NM_001034853.2
p.Q1104K
c.3310C>A
8 papers
NM_001034853.2
p.Y1103delFs
c.3308_3309delAT
1 paper
NM_001034853.2
p.G1093delFs
c.3278_3279delTC
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