Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K19Q

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.K19Q
c.55A>C
Surrounding Variants
1 paper
NM_001034853.2
p.K19_S20insA
c.55_59ins3
1 paper
NM_001034853.2
p.G18delFs
c.54delC
1 paper
NM_001034853.2
p.G18A
c.53G>C
1 paper
NM_001034853.2
p.F17S
c.50T>C
1 paper
NM_001034853.2
p.V14delins
c.42delinsC
2 papers
NM_001034853.2
p.A23D
c.68C>A
1 paper
NM_001034853.2
p.E24*
c.70G>T
1 paper
NM_001034853.2
p.V14L
c.40G>C
2 papers
NM_001034853.2
p.A23delFs
c.69delA
2 papers
NM_001034853.2
p.E24fs
c.70_71fs
1 paper
NM_001034853.2
p.A13T
c.37G>A
1 paper
NM_001034853.2
p.G12delFs
c.35delC
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