Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.S421fs

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
4 papers
NM_001034853.2
p.S421fs
c.1261_1262fs
Surrounding Variants
4 papers
NM_001034853.2
p.S421insFs
c.1261dupT
1 paper
NM_001034853.2
p.F422delFs
c.1264_1265delAA
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.R417fs
c.1249_1250fs
1 paper
NM_001034853.2
p.R425R
c.1273A>C
3 papers
NM_001034853.2
p.R425K
c.1274G>A
2 papers
NM_001034853.2
p.E416fs
c.1246_1247fs
1 paper
NM_001034853.2
p.R415_E416Splc
c.1246-1G>C
1 paper
NM_001034853.2
p.R426delFs
c.1276delT
1 paper
NM_001034853.2
p.R415_E416Splc
c.1246-2A>G
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