Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E843fs

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.E843fs
c.2527_2528fs
Surrounding Variants
1 paper
NM_001034853.2
p.E843*
c.2527G>T
1 paper
NM_001034853.2
p.E843K
c.2527G>A
1 paper
NM_001034853.2
p.E843insFs
c.2527dupG
2 papers
NM_001034853.2
p.E843delFs
c.2527delC
1 paper
NM_001034853.2
p.G842E
c.2525G>A
3 papers
NM_001034853.2
p.E838_G842del5
c.2512_2525del15
1 paper
NM_001034853.2
p.E843delFs
c.2529delT
1 paper
NM_001034853.2
p.E844fs
c.2530_2531fs
7 papers
NM_001034853.2
p.E841delFs
c.2522delT
1 paper
NM_001034853.2
p.E844G
c.2531A>G
2 papers
NM_001034853.2
p.G842_E843del2
c.2524_2528del6
1 paper
NM_001034853.2
p.G833_G840del8
c.2497_2519del24
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