Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E961G

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.E961G
c.2882A>G
Surrounding Variants
1 paper
NM_001034853.2
p.G962delFs
c.2886delT
1 paper
NM_001034853.2
p.E963fs
c.2887_2888fs
1 paper
NM_001034853.2
p.E959G
c.2876A>G
6 papers
NM_001034853.2
p.E958delFs
c.2872delC
3 papers
NM_001034853.2
p.E958*
c.2872G>T
5 papers
NM_001034853.2
p.E958fs
c.2872_2873fs
4 papers
NM_001034853.2
p.E965*
c.2893G>T
5 papers
NM_001034853.2
p.E965fs
c.2893_2894fs
1 paper
NM_001034853.2
p.E965delFs
c.2893delC
3 papers
NM_001034853.2
p.G964_E965delFs
c.2892_2893delCC
1 paper
NM_001034853.2
p.E965fs
c.2893_2894fs
1 paper
NM_001034853.2
p.E965E
c.2895G>A
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