Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1066delFs

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.E1066delFs
c.3197_3198delCT
Surrounding Variants
1 paper
NM_001034853.2
p.E1066del1
c.3196_3197delCTC
1 paper
NM_001034853.2
p.E1066delFs
c.3197delT
1 paper
NM_001034853.2
p.E1065_E1066del1
c.3195_3197delTCT
2 papers
NM_001034853.2
p.E1066fs
c.3196_3197fs
1 paper
NM_001034853.2
p.K1068*
c.3202A>T
1 paper
NM_001034853.2
p.E1063_E1064del1
c.3189_3191delTCC
1 paper
NM_001034853.2
p.E1063delFs
c.3187_3188delTC
1 paper
NM_001034853.2
p.Q1070fs
c.3208_3209fs
1 paper
NM_001034853.2
p.Q1070*
c.3208C>T
4 papers
NM_001034853.2
p.E1071*
c.3211G>T
1 paper
NM_001034853.2
p.Q1070delFs
c.3209_3210delCT
3 papers
NM_001034853.2
p.E1071fs
c.3211_3212fs
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