Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Y1085*

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.Y1085*
c.3255C>A
Surrounding Variants
1 paper
NM_001034853.2
p.Y1085*
c.3255C>G
2 papers
NM_001034853.2
p.Y1085delFs
c.3255delG
1 paper
NM_001034853.2
p.E1084_Y1085del2
c.3250_3254del6
1 paper
NM_001034853.2
p.E1083_E1084delFs
c.3248_3252del5
1 paper
NM_001034853.2
p.E1084A
c.3251A>C
1 paper
NM_001034853.2
p.K1087_V1088ins4
c.3259_3263ins12
2 papers
NM_001034853.2
p.V1088insFs
c.3262_3263insA
2 papers
NM_001034853.2
p.V1088fs
c.3262_3263fs
1 paper
NM_001034853.2
p.K1087delFs
c.3261delT
1 paper
NM_001034853.2
p.E1084_K1087del4
c.3250_3260del12
1 paper
NM_001034853.2
p.E1083fs
c.3247_3248fs
3 papers
NM_001034853.2
p.V1088V
c.3264G>A
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