Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.P468_E469delFs

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
3 papers
NM_001034853.2
p.P468_E469delFs
c.1402_1405del4
Surrounding Variants
1 paper
NM_001034853.2
p.E469Q
c.1405G>C
2 papers
NM_001034853.2
p.P468fs
c.1402_1403fs
7 papers
NM_001034853.2
p.Q467*
c.1399C>T
2 papers
NM_001034853.2
p.Q467K
c.1399C>A
3 papers
NM_001034853.2
p.D472Splc
c.1414+1G>T
1 paper
NM_001034853.2
p.D472Splc
c.1414+2T>A
1 paper
NM_001034853.2
p.L465delFs
c.1393delG
1 paper
NM_001034853.2
p.L465fs
c.1393_1394fs
2 papers
NM_001034853.2
p.Q463*
c.1387C>T
1 paper
NM_001034853.2
p.L460fs
c.1378_1379fs
1 paper
NM_001034853.2
p.L460delFs
c.1379delA
1 paper
NM_001034853.2
p.L460*
c.1379T>G
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