Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1074K

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.E1074K
c.3220G>A
Surrounding Variants
3 papers
NM_001034853.2
p.G1073G
c.3219C>T
1 paper
NM_001034853.2
p.E1071_G1073delFs
c.3212_3218del7
1 paper
NM_001034853.2
p.E1071_G1073del3
c.3211_3218del9
1 paper
NM_001034853.2
p.E1075fs
c.3223_3224fs
2 papers
NM_001034853.2
p.E1075_E1076del1
c.3225_3227delTCT
1 paper
NM_001034853.2
p.E1071insFs
c.3211_3212insGT
4 papers
NM_001034853.2
p.E1071*
c.3211G>T
1 paper
NM_001034853.2
p.Q1070delFs
c.3209_3210delCT
3 papers
NM_001034853.2
p.E1071fs
c.3211_3212fs
1 paper
NM_001034853.2
p.E1076del1
c.3226_3227delCTC
2 papers
NM_001034853.2
p.E1078*
c.3232G>T
1 paper
NM_001034853.2
p.Q1070fs
c.3208_3209fs
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