Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1060delFs

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
21 papers
NM_001034853.2
p.E1060delFs
c.3178_3179delTC
Surrounding Variants
17 papers
NM_001034853.2
p.E1060fs
c.3178_3179fs
1 paper
NM_001034853.2
p.E1060_E1061del1
c.3180_3182delTCT
1 paper
NM_001034853.2
p.E1060_E1061delFs
c.3179_3183del5
2 papers
NM_001034853.2
p.R1057del1
c.3169_3170delCCT
1 paper
NM_001034853.2
p.E1063delFs
c.3187_3188delTC
2 papers
NM_001034853.2
p.R1056S
c.3168G>T
2 papers
NM_001034853.2
p.R1056S
c.3168G>C
2 papers
NM_001034853.2
p.R1056delFs
c.3166_3167delCT
1 paper
NM_001034853.2
p.E1063_E1064del1
c.3189_3191delTCC
1 paper
NM_001034853.2
p.N1055delFs
c.3164delT
1 paper
NM_001034853.2
p.N1055delFs
c.3163_3164delTT
2 papers
NM_001034853.2
p.E1066fs
c.3196_3197fs
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