Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1045fs

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
4 papers
NM_001034853.2
p.E1045fs
c.3133_3134fs
Surrounding Variants
2 papers
NM_001034853.2
p.E1045insFs
c.3133_3134insC
1 paper
NM_001034853.2
p.E1045del1
c.3133_3135delTTC
2 papers
NM_001034853.2
p.E1042del1
c.3124_3125delTTC
1 paper
NM_001034853.2
p.E1036_E1041del6
c.3106_3122del18
2 papers
NM_001034853.2
p.E1045_R1046delFs
c.3134_3137del4
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.E1041_E1042del1
c.3123_3125delTCC
1 paper
NM_001034853.2
p.E1041delFs
c.3122delT
3 papers
NM_001034853.2
p.E1036_E1041del0
c.3108_3122del15
1 paper
NM_001034853.2
p.K1048R
c.3143A>G
4 papers
NM_001034853.2
p.K1048insFs
c.3142_3143dupAA
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