Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.P429fs

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.P429fs
c.1285_1286fs
Surrounding Variants
1 paper
NM_001034853.2
p.P429S
c.1285C>T
1 paper
NM_001034853.2
p.P429L
c.1286C>T
1 paper
NM_001034853.2
p.L428insFs
c.1283dupT
1 paper
NM_001034853.2
p.P430S
c.1288C>T
7 papers
NM_001034853.2
p.L428V
c.1282C>G
1 paper
NM_001034853.2
p.S421_T427delFs
c.1261_1279del19
2 papers
NM_001034853.2
p.I431V
c.1291A>G
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.R426delFs
c.1276delT
1 paper
NM_001034853.2
p.E432G
c.1295A>G
3 papers
NM_001034853.2
p.R425K
c.1274G>A
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