Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1035fs

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
7 papers
NM_001034853.2
p.E1035fs
c.3103_3104fs
Surrounding Variants
2 papers
NM_001034853.2
p.E1035G
c.3104A>G
1 paper
NM_001034853.2
p.E1035fs
c.3103_3104fs
1 paper
NM_001034853.2
p.E1035insFs
c.3104_3105insAA
1 paper
NM_001034853.2
p.E1036K
c.3106G>A
11 papers
NM_001034853.2
p.E1035delFs
c.3104_3105delCT
2 papers
NM_001034853.2
p.E1036fs
c.3106_3107fs
1 paper
NM_001034853.2
p.E1033fs
c.3097_3098fs
4 papers
NM_001034853.2
p.E1036delFs
c.3106delC
1 paper
NM_001034853.2
p.E1028_G1032del5
c.3082_3095del15
1 paper
NM_001034853.2
p.E1033delFs
c.3097delC
9 papers
NM_001034853.2
p.G1032_E1033delFs
c.3096_3097delCC
1 paper
NM_001034853.2
p.E1037*
c.3109G>T
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