Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.A647fs

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.A647fs
c.1939_1940fs
Surrounding Variants
1 paper
NM_001034853.2
p.E646_A647insFs
c.1938_1939ins5
1 paper
NM_001034853.2
p.E646D
c.1938A>C
1 paper
NM_001034853.2
p.E646*
c.1936G>T
1 paper
NM_001034853.2
p.G645fs
c.1933_1934fs
1 paper
NM_001034853.2
p.D649Y
c.1945G>T
1 paper
NM_001034853.2
p.G645*
c.1933G>T
2 papers
NM_001034853.2
p.G645insFs
c.1933_1934insC
1 paper
NM_001034853.2
p.G645R
c.1933G>C
1 paper
NM_001034853.2
p.G645R
c.1933G>A
1 paper
NM_001034853.2
p.G645fs
c.1933_1934fs
1 paper
NM_001034853.2
p.V644M
c.1930G>A
4 papers
NM_001034853.2
p.S643*
c.1928C>G
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