Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.R745fs

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
6 papers
NM_001034853.2
p.R745fs
c.2233_2234fs
Surrounding Variants
1 paper
NM_001034853.2
p.D744E
c.2232C>G
1 paper
NM_001034853.2
p.D744E
c.2232C>A
2 papers
NM_001034853.2
p.R745fs
c.2233_2234fs
1 paper
NM_001034853.2
p.R745delFs
c.2234delC
2 papers
NM_001034853.2
p.G730_G743del14
c.2188_2228del42
1 paper
NM_001034853.2
p.E746Q
c.2236G>C
6 papers
NM_001034853.2
p.D744_R745delFs
c.2232_2235del4
4 papers
NM_001034853.2
p.D744fs
c.2230_2231fs
28 papers
NM_001034853.2
p.E746fs
c.2236_2237fs
1 paper
NM_001034853.2
p.E746delFs
c.2236delC
1 paper
NM_001034853.2
p.E742_G743del1
c.2225_2227delCCT
12 papers
NM_001034853.2
p.E746fs
c.2236_2237fs
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