Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E956delFs

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.E956delFs
c.2867delT
Surrounding Variants
1 paper
NM_001034853.2
p.E956delFs
c.2866delC
3 papers
NM_001034853.2
p.E956fs
c.2866_2867fs
3 papers
NM_001034853.2
p.W955*
c.2865G>A
3 papers
NM_001034853.2
p.E958*
c.2872G>T
2 papers
NM_001034853.2
p.W955*
c.2864G>A
5 papers
NM_001034853.2
p.E958fs
c.2872_2873fs
1 paper
NM_001034853.2
p.E954insFs
c.2862dupA
1 paper
NM_001034853.2
p.W955G
c.2863T>G
1 paper
NM_001034853.2
p.W955fs
c.2863_2864fs
6 papers
NM_001034853.2
p.E958delFs
c.2872delC
1 paper
NM_001034853.2
p.E954*
c.2860G>T
1 paper
NM_001034853.2
p.E959G
c.2876A>G
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