Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.S71_K72insFs

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.S71_K72insFs
c.211_215dup5
Surrounding Variants
1 paper
NM_001034853.2
p.K72fs
c.214_215fs
3 papers
NM_001034853.2
p.K72delFs
c.215delT
2 papers
NM_001034853.2
p.K72fs
c.214_215fs
1 paper
NM_001034853.2
p.S73*
c.218C>A
3 papers
NM_001034853.2
p.S73delFs
c.219delT
1 paper
NM_001034853.2
p.S71L
c.212C>T
4 papers
NM_001034853.2
p.S71*
c.212C>G
4 papers
NM_001034853.2
p.S71*
c.212C>A
3 papers
NM_001034853.2
p.A74fs
c.220_221fs
1 paper
NM_001034853.2
p.G70delFs
c.208delC
1 paper
NM_001034853.2
p.G70E
c.209G>A
3 papers
NM_001034853.2
p.I75V
c.223A>G
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