Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K751E

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.K751E
c.2251A>G
Surrounding Variants
6 papers
NM_001034853.2
p.K751fs
c.2251_2252fs
1 paper
NM_001034853.2
p.K751*
c.2251A>T
3 papers
NM_001034853.2
p.E750_K751delFs
c.2250_2251delTC
1 paper
NM_001034853.2
p.E750*
c.2248G>T
1 paper
NM_001034853.2
p.E750_K751delFs
c.2249_2253del5
1 paper
NM_001034853.2
p.E750fs
c.2248_2249fs
1 paper
NM_001034853.2
p.E749E
c.2247A>G
1 paper
NM_001034853.2
p.E752delFs
c.2254delC
1 paper
NM_001034853.2
p.E752D
c.2256G>T
1 paper
NM_001034853.2
p.E752fs
c.2254_2255fs
1 paper
NM_001034853.2
p.E752D
c.2256G>C
6 papers
NM_001034853.2
p.K751_E752delFs
c.2252_2255del4
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