Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E836fs

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
6 papers
NM_001034853.2
p.E836fs
c.2506_2507fs
Surrounding Variants
1 paper
NM_001034853.2
p.E836*
c.2506G>T
2 papers
NM_001034853.2
p.E836insFs
c.2506dupG
7 papers
NM_001034853.2
p.E836delFs
c.2506delC
3 papers
NM_001034853.2
p.G835_E836delFs
c.2505_2506delCC
1 paper
NM_001034853.2
p.E836fs
c.2506_2507fs
2 papers
NM_001034853.2
p.E837*
c.2509G>T
3 papers
NM_001034853.2
p.E834delFs
c.2501_2502delCT
1 paper
NM_001034853.2
p.E834fs
c.2500_2501fs
7 papers
NM_001034853.2
p.E834delFs
c.2501delT
2 papers
NM_001034853.2
p.E837D
c.2511G>T
1 paper
NM_001034853.2
p.E837fs
c.2509_2510fs
2 papers
NM_001034853.2
p.E837D
c.2511G>C
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