Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.C440fs

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.C440fs
c.1318_1319fs
Surrounding Variants
3 papers
NM_001034853.2
p.G436_C440del0
c.1307_1318del12
1 paper
NM_001034853.2
p.A439T
c.1315G>A
1 paper
NM_001034853.2
p.F441Y
c.1322T>A
2 papers
NM_001034853.2
p.C440_F441delFs
c.1319_1322del4
1 paper
NM_001034853.2
p.S438C
c.1313C>G
1 paper
NM_001034853.2
p.G433_G436insFs
c.1299_1306dup8
30 papers
NM_001034853.2
p.G436D
c.1307G>A
2 papers
NM_001034853.2
p.N444fs
c.1330_1331fs
2 papers
NM_001034853.2
p.L435delFs
c.1304_1305delAA
1 paper
NM_001034853.2
p.N444Y
c.1330A>T
1 paper
NM_001034853.2
p.N444D
c.1330A>G
2 papers
NM_001034853.2
p.P443delFs
c.1329delG
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