Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.V819fs

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.V819fs
c.2455_2456fs
Surrounding Variants
1 paper
NM_001034853.2
p.V819insFs
c.2455dupG
1 paper
NM_001034853.2
p.V819fs
c.2455_2456fs
1 paper
NM_001034853.2
p.V819_E820delFs
c.2457_2460del4
1 paper
NM_001034853.2
p.E818delFs
c.2452delC
3 papers
NM_001034853.2
p.E818*
c.2452G>T
5 papers
NM_001034853.2
p.G816_E821del0
c.2447_2461del15
1 paper
NM_001034853.2
p.E818fs
c.2452_2453fs
3 papers
NM_001034853.2
p.G817fs
c.2449_2450fs
1 paper
NM_001034853.2
p.G822fs
c.2464_2465fs
14 papers
NM_001034853.2
p.G817fs
c.2449_2450fs
1 paper
NM_001034853.2
p.G816delFs
c.2447delC
3 papers
NM_001034853.2
p.K823*
c.2467A>T
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