Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.V814fs

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.V814fs
c.2440_2441fs
Surrounding Variants
1 paper
NM_001034853.2
p.G812_E813del2
c.2434_2438del6
2 papers
NM_001034853.2
p.E815*
c.2443G>T
1 paper
NM_001034853.2
p.V814delFs
c.2442delT
1 paper
NM_001034853.2
p.E815fs
c.2443_2444fs
26 papers
NM_001034853.2
p.V814_E815delFs
c.2442_2445del4
1 paper
NM_001034853.2
p.G816fs
c.2446_2447fs
1 paper
NM_001034853.2
p.E813*
c.2437G>T
3 papers
NM_001034853.2
p.E807_G812delFs
c.2420_2435del16
1 paper
NM_001034853.2
p.G816delFs
c.2447delC
14 papers
NM_001034853.2
p.G817fs
c.2449_2450fs
3 papers
NM_001034853.2
p.G817fs
c.2449_2450fs
3 papers
NM_001034853.2
p.E818*
c.2452G>T
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