Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.N1114fs

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.N1114fs
c.3340_3341fs
Surrounding Variants
1 paper
NM_001034853.2
p.G1113delFs
c.3338delC
1 paper
NM_001034853.2
p.G1113fs
c.3337_3338fs
3 papers
NM_001034853.2
p.Q1112*
c.3334C>T
2 papers
NM_001034853.2
p.N1114_K1116Fs
c.3342_3346delinsGGGGFs
1 paper
NM_001034853.2
p.K1106_G1115del10
c.3316_3344del30
1 paper
NM_001034853.2
p.K1116delFs
c.3348delT
1 paper
NM_001034853.2
p.E1117fs
c.3349_3350fs
1 paper
NM_001034853.2
p.E1117D
c.3351G>T
1 paper
NM_001034853.2
p.E1117D
c.3351G>C
1 paper
NM_001034853.2
p.R1119K
c.3356G>A
3 papers
NM_001034853.2
p.S1107fs
c.3319_3320fs
5 papers
NM_001034853.2
p.S1107fs
c.3319_3320fs
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