Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K808delFs

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.K808delFs
c.2424delT
Surrounding Variants
1 paper
NM_001034853.2
p.E809*
c.2425G>T
22 papers
NM_001034853.2
p.E809fs
c.2425_2426fs
2 papers
NM_001034853.2
p.K808delFs
c.2423_2424delTT
4 papers
NM_001034853.2
p.E809fs
c.2425_2426fs
1 paper
NM_001034853.2
p.E809delFs
c.2426delT
40 papers
NM_001034853.2
p.E809delFs
c.2426_2427delCT
1 paper
NM_001034853.2
p.K808_E809insC
c.2422_2426ins3
1 paper
NM_001034853.2
p.K808fs
c.2422_2423fs
1 paper
NM_001034853.2
p.E807insFs
c.2419dupG
1 paper
NM_001034853.2
p.E807delFs
c.2419delC
1 paper
NM_001034853.2
p.E807*
c.2419G>T
4 papers
NM_001034853.2
p.R804_E806delFs
c.2412_2418del7
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."