Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E729*

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.E729*
c.2185G>T
Surrounding Variants
1 paper
NM_001034853.2
p.E729fs
c.2185_2186fs
1 paper
NM_001034853.2
p.E729delFs
c.2185delC
1 paper
NM_001034853.2
p.N724_E729delFs
c.2172_2185del14
1 paper
NM_001034853.2
p.Q725_E729delFs
c.2173_2186del14
2 papers
NM_001034853.2
p.G730*
c.2188G>T
1 paper
NM_001034853.2
p.G730fs
c.2188_2189fs
1 paper
NM_001034853.2
p.M727delins
c.2180_2181delinsAA
2 papers
NM_001034853.2
p.M727K
c.2180T>A
2 papers
NM_001034853.2
p.G730delFs
c.2189delC
1 paper
NM_001034853.2
p.G731fs
c.2191_2192fs
3 papers
NM_001034853.2
p.G730delFs
c.2190delT
1 paper
NM_001034853.2
p.E726D
c.2178G>T
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