Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Y1103delFs

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
8 papers
NM_001034853.2
p.Y1103delFs
c.3308_3309delAT
Surrounding Variants
1 paper
NM_001034853.2
p.Q1104K
c.3310C>A
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
2 papers
NM_001034853.2
p.Y1103S
c.3308A>C
4 papers
NM_001034853.2
p.Y1103fs
c.3307_3308fs
1 paper
NM_001034853.2
p.K1101_T1102delFs
c.3302_3306del5
1 paper
NM_001034853.2
p.K1106fs
c.3316_3317fs
1 paper
NM_001034853.2
p.K1106fs
c.3316_3317fs
8 papers
NM_001034853.2
p.K1106insFs
c.3317dupA
1 paper
NM_001034853.2
p.K1106delFs
c.3317delT
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