Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K857fs

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
5 papers
NM_001034853.2
p.K857fs
c.2569_2570fs
Surrounding Variants
3 papers
NM_001034853.2
p.K857E
c.2569A>G
4 papers
NM_001034853.2
p.G856_K857insFs
c.2568_2569insG
1 paper
NM_001034853.2
p.G858R
c.2572G>C
1 paper
NM_001034853.2
p.G858R
c.2572G>A
1 paper
NM_001034853.2
p.K857delFs
c.2571delT
2 papers
NM_001034853.2
p.K857delFs
c.2570_2571delTT
3 papers
NM_001034853.2
p.K857_G858delFs
c.2571_2572delCT
3 papers
NM_001034853.2
p.E859*
c.2575G>T
1 paper
NM_001034853.2
p.E855*
c.2563G>T
1 paper
NM_001034853.2
p.G854delFs
c.2562delT
4 papers
NM_001034853.2
p.E859fs
c.2575_2576fs
1 paper
NM_001034853.2
p.E859G
c.2576A>G
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