Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E978G

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.E978G
c.2933A>G
Surrounding Variants
1 paper
NM_001034853.2
p.G977_E978insFs
c.2931_2932ins4
1 paper
NM_001034853.2
p.G977_E978insFs
c.2931_2932ins34
3 papers
NM_001034853.2
p.E978fs
c.2932_2933fs
1 paper
NM_001034853.2
p.G979_E980insG
c.2935_2939ins3
1 paper
NM_001034853.2
p.G977_E978insFs
c.2931_2932ins29
3 papers
NM_001034853.2
p.G977*
c.2929G>T
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.E976D
c.2928A>T
1 paper
NM_001034853.2
p.E976D
c.2928A>C
4 papers
NM_001034853.2
p.G979_E980delFs
c.2937_2938delCC
1 paper
NM_001034853.2
p.E980insFs
c.2939dupA
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