Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1020_E1024del0

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
3 papers
NM_001034853.2
p.E1020_E1024del0
c.3060_3071del12
Surrounding Variants
2 papers
NM_001034853.2
p.E1024E
c.3072G>A
1 paper
NM_001034853.2
p.V1025M
c.3073G>A
3 papers
NM_001034853.2
p.V1025G
c.3074T>G
9 papers
NM_001034853.2
p.E1024*
c.3070G>T
1 paper
NM_001034853.2
p.E1024fs
c.3070_3071fs
1 paper
NM_001034853.2
p.G1023insFs
c.3068_3069insA
4 papers
NM_001034853.2
p.E1026fs
c.3076_3077fs
1 paper
NM_001034853.2
p.G1023R
c.3067G>C
1 paper
NM_001034853.2
p.G1023R
c.3067G>A
3 papers
NM_001034853.2
p.E1026_G1027delFs
c.3077_3080del4
1 paper
NM_001034853.2
p.E1024_G1027delFs
c.3071_3080del10
2 papers
NM_001034853.2
p.V1021G
c.3062T>G
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