Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.T51T

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
2 papers
NM_001034853.2
p.T51T
c.153C>T
Surrounding Variants
2 papers
NM_001034853.2
p.G52*
c.154G>T
19 papers
NM_001034853.2
p.G52R
c.154G>A
1 paper
NM_001034853.2
p.G52Splc
c.154+1G>A
1 paper
NM_001034853.2
p.V50G
c.149T>G
2 papers
NM_001034853.2
p.G52Splc
c.154+4A>G
1 paper
NM_001034853.2
p.G52Splc
c.154+5G>A
3 papers
NM_001034853.2
p.S47_A48insFs
c.140_144dup5
1 paper
NM_001034853.2
p.S47delFs
c.139delA
3 papers
NM_001034853.2
p.S47fs
c.139_140fs
1 paper
NM_001034853.2
p.H46R
c.137A>G
1 paper
NM_001034853.2
p.H46Y
c.136C>T
1 paper
NM_001034853.2
p.G52Splc
c.154+18G>A
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