Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E881G

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.E881G
c.2642A>G
Surrounding Variants
1 paper
NM_001034853.2
p.E881*
c.2641G>T
2 papers
NM_001034853.2
p.E875_E881delFs
c.2624_2643del20
1 paper
NM_001034853.2
p.E880G
c.2639A>G
1 paper
NM_001034853.2
p.E881_E882del1
c.2643_2645delTCC
1 paper
NM_001034853.2
p.E882del1
c.2644_2645delTTC
3 papers
NM_001034853.2
p.E879insFs
c.2635dupG
5 papers
NM_001034853.2
p.E879delFs
c.2635delC
5 papers
NM_001034853.2
p.E879fs
c.2635_2636fs
8 papers
NM_001034853.2
p.E884*
c.2650G>T
1 paper
NM_001034853.2
p.G878G
c.2634G>A
1 paper
NM_001034853.2
p.G878delins
c.2633_2634delinsAA
1 paper
NM_001034853.2
p.E873_G878ins2
c.2618_2632dup15
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