Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.Y1148*

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.Y1148*
c.3444C>A
Surrounding Variants
1 paper
NM_001034853.2
p.Y1148*
c.3444C>G
1 paper
NM_001034853.2
p.H1147D
c.3439C>G
1 paper
NM_001034853.2
p.L1151_K1152insT
c.3451_3455ins3
1 paper
NM_001034853.2
p.H1147_E1150del4
c.3439_3449del12
2 papers
NM_001034853.2
p.L1151F
c.3453G>T
2 papers
NM_001034853.2
p.L1151F
c.3453G>C
2 papers
NM_001034853.2
p.*1153K
c.3457T>A
5 papers
NM_001034853.2
p.V1144I
c.3430G>A
3 papers
NM_001034853.2
p.*1153S
c.3458A>C
1 paper
NM_001034853.2
p.N1143delFs
c.3428delT
1 paper
NM_001034853.2
p.N1143fs
c.3427_3428fs
2 papers
NM_001034853.2
p.W1141C
c.3423G>T
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