Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.D943E

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.D943E
c.2829T>G
Surrounding Variants
1 paper
NM_001034853.2
p.D943ins4
c.2828_2829ins12
1 paper
NM_001034853.2
p.D943E
c.2829T>A
1 paper
NM_001034853.2
p.D943fs
c.2827_2828fs
5 papers
NM_001034853.2
p.E945*
c.2833G>T
1 paper
NM_001034853.2
p.G941A
c.2822G>C
1 paper
NM_001034853.2
p.E940_G946insFs
c.2819_2837dup19
1 paper
NM_001034853.2
p.E940E
c.2820A>G
1 paper
NM_001034853.2
p.E940_G946insFs
c.2819_2838dup20
1 paper
NM_001034853.2
p.E947_G948insG
c.2839_2843ins3
2 papers
NM_001034853.2
p.E947fs
c.2839_2840fs
1 paper
NM_001034853.2
p.E940delFs
c.2818delC
1 paper
NM_001034853.2
p.G939_E940delFs
c.2817_2818delCC
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