Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K823_G824delFs

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.K823_G824delFs
c.2468_2472del5
Surrounding Variants
2 papers
NM_001034853.2
p.E825fs
c.2473_2474fs
1 paper
NM_001034853.2
p.E825delFs
c.2473delC
1 paper
NM_001034853.2
p.G824delFs
c.2470_2471delCC
3 papers
NM_001034853.2
p.R826fs
c.2476_2477fs
1 paper
NM_001034853.2
p.K823fs
c.2467_2468fs
1 paper
NM_001034853.2
p.G822_K823delFs
c.2464_2468del5
3 papers
NM_001034853.2
p.V819_K823delFs
c.2455_2468del14
1 paper
NM_001034853.2
p.R826fs
c.2476_2477fs
4 papers
NM_001034853.2
p.R826delFs
c.2476_2477delCT
2 papers
NM_001034853.2
p.E825_R826delFs
c.2474_2477del4
2 papers
NM_001034853.2
p.K823_R826delFs
c.2467_2477del11
2 papers
NM_001034853.2
p.G822_K823delFs
c.2466_2467delTC
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