Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E997fs

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.E997fs
c.2989_2990fs
Surrounding Variants
1 paper
NM_001034853.2
p.E997G
c.2990A>G
2 papers
NM_001034853.2
p.G995_E996delFs
c.2985_2986delCC
1 paper
NM_001034853.2
p.E992_E997del0
c.2976_2990del15
1 paper
NM_001034853.2
p.E996*
c.2986G>T
5 papers
NM_001034853.2
p.E998fs
c.2992_2993fs
2 papers
NM_001034853.2
p.E996fs
c.2986_2987fs
1 paper
NM_001034853.2
p.G995_E998Fs
c.2985_2993delinsAGAAGGGGFs
2 papers
NM_001034853.2
p.E998fs
c.2992_2993fs
1 paper
NM_001034853.2
p.G999W
c.2995G>T
1 paper
NM_001034853.2
p.E998delFs
c.2994delT
1 paper
NM_001034853.2
p.E998_G999del1
c.2993_2995delCTT
4 papers
NM_001034853.2
p.E998_G999delFs
c.2993_2996del4
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