Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G979_E980delFs

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
4 papers
NM_001034853.2
p.G979_E980delFs
c.2937_2938delCC
Surrounding Variants
1 paper
NM_001034853.2
p.E980insFs
c.2939dupA
4 papers
NM_001034853.2
p.E973_E980ins2
c.2919_2939dup21
1 paper
NM_001034853.2
p.E978_G979delFs
c.2933_2937del5
3 papers
NM_001034853.2
p.E980fs
c.2938_2939fs
1 paper
NM_001034853.2
p.E980insFs
c.2939_2940insAG
2 papers
NM_001034853.2
p.E973_E980insFs
c.2919_2940dup22
1 paper
NM_001034853.2
p.G979_E980insG
c.2935_2939ins3
1 paper
NM_001034853.2
p.E980insFs
c.2939_2940ins5
1 paper
NM_001034853.2
p.E975_G981insFs
c.2924_2943dup20
5 papers
NM_001034853.2
p.E982fs
c.2944_2945fs
1 paper
NM_001034853.2
p.E978G
c.2933A>G
5 papers
NM_001034853.2
p.E982delFs
c.2944delC
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