Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E602D

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.E602D
c.1806G>T
Surrounding Variants
1 paper
NM_001034853.2
p.G600*
c.1798G>T
2 papers
NM_001034853.2
p.E607K
c.1819G>A
1 paper
NM_001034853.2
p.A608insFs
c.1822_1823insA
1 paper
NM_001034853.2
p.N609fs
c.1825_1826fs
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.N609insFs
c.1826dupA
1 paper
NM_001034853.2
p.E610_E611insFs
c.1830_1831insA
2 papers
NM_001034853.2
p.E611G
c.1832A>G
1 paper
NM_001034853.2
p.N612fs
c.1834_1835fs
1 paper
NM_001034853.2
p.E591_G592delFs
c.1773_1776del4
3 papers
NM_001034853.2
p.E611insFs
c.1832_1833insA
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