Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K694*

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.K694*
c.2080A>T
Surrounding Variants
3 papers
NM_001034853.2
p.K694fs
c.2080_2081fs
1 paper
NM_001034853.2
p.K694insFs
c.2080_2081ins8
2 papers
NM_001034853.2
p.E691_K694insFs
c.2073_2080dup8
1 paper
NM_001034853.2
p.E693fs
c.2077_2078fs
2 papers
NM_001034853.2
p.P689_G692del4
c.2065_2075del12
1 paper
NM_001034853.2
p.G692insFs
c.2075dupG
1 paper
NM_001034853.2
p.P689_G692delFs
c.2065_2074del10
2 papers
NM_001034853.2
p.G692*
c.2074G>T
1 paper
NM_001034853.2
p.L696fs
c.2086_2087fs
1 paper
NM_001034853.2
p.L696delFs
c.2088delT
1 paper
NM_001034853.2
p.A697fs
c.2089_2090fs
1 paper
NM_001034853.2
p.A697fs
c.2089_2090fs
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