Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E998fs

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.E998fs
c.2992_2993fs
Surrounding Variants
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.G995_E998Fs
c.2985_2993delinsAGAAGGGGFs
1 paper
NM_001034853.2
p.E998_G999del1
c.2993_2995delCTT
5 papers
NM_001034853.2
p.E998fs
c.2992_2993fs
4 papers
NM_001034853.2
p.E998_G999delFs
c.2993_2996del4
1 paper
NM_001034853.2
p.E992_E997del0
c.2976_2990del15
7 papers
NM_001034853.2
p.E998_G999delFs
c.2993_2997del5
9 papers
NM_001034853.2
p.E1000fs
c.2998_2999fs
1 paper
NM_001034853.2
p.E997G
c.2990A>G
11 papers
NM_001034853.2
p.G999_E1000delFs
c.2997_2998delCC
1 paper
NM_001034853.2
p.E997fs
c.2989_2990fs
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