Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G1136D

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.G1136D
c.3407G>A
Surrounding Variants
7 papers
NM_001034853.2
p.G1133delFs
c.3399delC
5 papers
NM_001034853.2
p.P1134fs
c.3400_3401fs
1 paper
NM_001034853.2
p.N1132_G1133delFs
c.3394_3397del4
1 paper
NM_001034853.2
p.K1139fs
c.3415_3416fs
1 paper
NM_001034853.2
p.K1139delFs
c.3416delT
5 papers
NM_001034853.2
p.N1132N
c.3396C>T
2 papers
NM_001034853.2
p.N1132fs
c.3394_3395fs
1 paper
NM_001034853.2
p.N1132insFs
c.3395dupA
5 papers
NM_001034853.2
p.N1132delFs
c.3395delT
2 papers
NM_001034853.2
p.N1132delFs
c.3394_3395delTT
3 papers
NM_001034853.2
p.N1132fs
c.3394_3395fs
1 paper
NM_001034853.2
p.K1131I
c.3392A>T
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