Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.F422delFs

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.F422delFs
c.1264_1265delAA
Surrounding Variants
1 paper
NM_001034853.2
p.M424fs
c.1270_1271fs
1 paper
NM_001034853.2
p.M424V
c.1270A>G
1 paper
NM_001034853.2
p.M424insFs
c.1271dupT
1 paper
NM_001034853.2
p.R425R
c.1273A>C
3 papers
NM_001034853.2
p.R425K
c.1274G>A
4 papers
NM_001034853.2
p.S421insFs
c.1261dupT
4 papers
NM_001034853.2
p.S421fs
c.1261_1262fs
1 paper
NM_001034853.2
p.R426delFs
c.1276delT
1 paper
NM_001034853.2
p.R426insFs
c.1277_1278dupGA
1 paper
NM_001034853.2
p.T427fs
c.1279_1280fs
1 paper
NM_001034853.2
p.S421_T427delFs
c.1261_1279del19
7 papers
NM_001034853.2
p.L428V
c.1282C>G
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