Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1049_G1050delFs

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.E1049_G1050delFs
c.3146_3149del4
Surrounding Variants
1 paper
NM_001034853.2
p.E1049delFs
c.3146_3147delCT
1 paper
NM_001034853.2
p.E1049delFs
c.3147delC
2 papers
NM_001034853.2
p.E1049delFs
c.3146delT
5 papers
NM_001034853.2
p.E1049fs
c.3145_3146fs
4 papers
NM_001034853.2
p.K1048insFs
c.3142_3143dupAA
1 paper
NM_001034853.2
p.K1048R
c.3143A>G
3 papers
NM_001034853.2
p.E1054*
c.3160G>T
2 papers
NM_001034853.2
p.E1047*
c.3139G>T
4 papers
NM_001034853.2
p.E1045_R1046delFs
c.3134_3138del5
2 papers
NM_001034853.2
p.E1045_R1046delFs
c.3134_3137del4
2 papers
NM_001034853.2
p.N1055fs
c.3163_3164fs
1 paper
NM_001034853.2
p.N1055I
c.3164A>T
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