Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.R619fs

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.R619fs
c.1855_1856fs
Surrounding Variants
2 papers
NM_001034853.2
p.G618_R619insFs
c.1853_1856dup4
1 paper
NM_001034853.2
p.R619delFs
c.1856delC
1 paper
NM_001034853.2
p.E621K
c.1861G>A
1 paper
NM_001034853.2
p.K620delFs
c.1859_1860delCT
1 paper
NM_001034853.2
p.E621fs
c.1861_1862fs
1 paper
NM_001034853.2
p.E621insFs
c.1861dupG
2 papers
NM_001034853.2
p.K620_E621delFs
c.1860_1861delCC
1 paper
NM_001034853.2
p.G618_E621del4
c.1852_1862del12
1 paper
NM_001034853.2
p.K622fs
c.1864_1865fs
1 paper
NM_001034853.2
p.K614_V615insFs
c.1840_1843dup4
1 paper
NM_001034853.2
p.K620_E621del2
c.1858_1862del6
1 paper
NM_001034853.2
p.V615L
c.1843G>T
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."