Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.P448S

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.P448S
c.1342C>T
Surrounding Variants
1 paper
NM_001034853.2
p.F447delFs
c.1340_1341delAA
1 paper
NM_001034853.2
p.F447fs
c.1339_1340fs
14 papers
NM_001034853.2
p.R449*
c.1345C>T
1 paper
NM_001034853.2
p.R449fs
c.1345_1346fs
1 paper
NM_001034853.2
p.R449Q
c.1346G>A
1 paper
NM_001034853.2
p.P448_R449delFs
c.1344_1345delGT
2 papers
NM_001034853.2
p.C450R
c.1348T>C
3 papers
NM_001034853.2
p.F441_N444del0
c.1321_1332del12
1 paper
NM_001034853.2
p.N444S
c.1331A>G
2 papers
NM_001034853.2
p.N444fs
c.1330_1331fs
1 paper
NM_001034853.2
p.N444Y
c.1330A>T
1 paper
NM_001034853.2
p.N444D
c.1330A>G
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