Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K1096Fs

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.K1096Fs
c.3286_3287delinsCFs
Surrounding Variants
1 paper
NM_001034853.2
p.G1093delFs
c.3278_3279delTC
1 paper
NM_001034853.2
p.G1093_S1094insT
c.3277_3281ins3
1 paper
NM_001034853.2
p.K1092delFs
c.3276delT
2 papers
NM_001034853.2
p.G1093fs
c.3277_3278fs
3 papers
NM_001034853.2
p.H1100fs
c.3298_3299fs
5 papers
NM_001034853.2
p.H1100_K1101delFs
c.3300_3301delTA
1 paper
NM_001034853.2
p.I1091L
c.3271A>T
1 paper
NM_001034853.2
p.I1091L
c.3271A>C
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.V1088_S1089delFs
c.3263_3266del4
2 papers
NM_001034853.2
p.Y1103S
c.3308A>C
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