Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G1093_S1094insT

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.G1093_S1094insT
c.3277_3281ins3
Surrounding Variants
1 paper
NM_001034853.2
p.K1092delFs
c.3276delT
2 papers
NM_001034853.2
p.G1093fs
c.3277_3278fs
1 paper
NM_001034853.2
p.G1093delFs
c.3278_3279delTC
1 paper
NM_001034853.2
p.I1091L
c.3271A>T
1 paper
NM_001034853.2
p.I1091L
c.3271A>C
2 papers
NM_001034853.2
p.V1088_S1089delFs
c.3263_3266del4
1 paper
NM_001034853.2
p.K1096Fs
c.3286_3287delinsCFs
3 papers
NM_001034853.2
p.V1088V
c.3264G>A
1 paper
NM_001034853.2
p.E1084_K1087del4
c.3250_3260del12
2 papers
NM_001034853.2
p.V1088insFs
c.3262_3263insA
2 papers
NM_001034853.2
p.V1088fs
c.3262_3263fs
1 paper
NM_001034853.2
p.K1087delFs
c.3261delT
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