Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Q1080_D1081delFs

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.Q1080_D1081delFs
c.3238_3241del4
Surrounding Variants
1 paper
NM_001034853.2
p.D1081delFs
c.3241delC
2 papers
NM_001034853.2
p.D1081fs
c.3241_3242fs
1 paper
NM_001034853.2
p.G1073_R1079insFs
c.3218_3236dup19
1 paper
NM_001034853.2
p.E1083fs
c.3247_3248fs
1 paper
NM_001034853.2
p.E1084A
c.3251A>C
2 papers
NM_001034853.2
p.E1078*
c.3232G>T
1 paper
NM_001034853.2
p.E1083_E1084delFs
c.3248_3252del5
1 paper
NM_001034853.2
p.Y1085*
c.3255C>G
1 paper
NM_001034853.2
p.Y1085*
c.3255C>A
1 paper
NM_001034853.2
p.E1076del1
c.3226_3227delCTC
2 papers
NM_001034853.2
p.E1075_E1076del1
c.3225_3227delTCT
2 papers
NM_001034853.2
p.Y1085delFs
c.3255delG
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