Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E589K

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
2 papers
NM_001034853.2
p.E589K
c.1765G>A
Surrounding Variants
3 papers
NM_001034853.2
p.E589*
c.1765G>T
1 paper
NM_001034853.2
p.E589fs
c.1765_1766fs
1 paper
NM_001034853.2
p.P587R
c.1760C>G
2 papers
NM_001034853.2
p.G592fs
c.1774_1775fs
2 papers
NM_001034853.2
p.E585K
c.1753G>A
1 paper
NM_001034853.2
p.E591_G592delFs
c.1773_1776del4
3 papers
NM_001034853.2
p.E585Splc
c.1754-3C>G
1 paper
NM_001034853.2
p.E585Splc
c.1754-9G>A
1 paper
NM_001034853.2
p.S596*
c.1787C>G
1 paper
NM_001034853.2
p.S596*
c.1787C>A
1 paper
NM_001034853.2
p.G600*
c.1798G>T
1 paper
NM_001034853.2
p.E602D
c.1806G>T
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