Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.H46Y

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.H46Y
c.136C>T
Surrounding Variants
1 paper
NM_001034853.2
p.H46R
c.137A>G
1 paper
NM_001034853.2
p.E45V
c.134A>T
3 papers
NM_001034853.2
p.S47fs
c.139_140fs
1 paper
NM_001034853.2
p.S47delFs
c.139delA
1 paper
NM_001034853.2
p.D44fs
c.130_131fs
1 paper
NM_001034853.2
p.G43insFs
c.128dupG
8 papers
NM_001034853.2
p.G43E
c.128G>A
3 papers
NM_001034853.2
p.S47_A48insFs
c.140_144dup5
6 papers
NM_001034853.2
p.G43R
c.127G>C
5 papers
NM_001034853.2
p.G43R
c.127G>A
2 papers
NM_001034853.2
p.C42W
c.126T>G
1 paper
NM_001034853.2
p.C42Y
c.125G>A
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