Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.M686K

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.M686K
c.2057T>A
Surrounding Variants
2 papers
NM_001034853.2
p.E687*
c.2059G>T
1 paper
NM_001034853.2
p.E685K
c.2053G>A
1 paper
NM_001034853.2
p.M686_E687delFs
c.2057_2060del4
3 papers
NM_001034853.2
p.R688fs
c.2062_2063fs
3 papers
NM_001034853.2
p.R688delFs
c.2064delC
1 paper
NM_001034853.2
p.P689fs
c.2065_2066fs
3 papers
NM_001034853.2
p.G682insFs
c.2045_2046dupGT
3 papers
NM_001034853.2
p.R683fs
c.2047_2048fs
4 papers
NM_001034853.2
p.K681delFs
c.2041_2042delTT
2 papers
NM_001034853.2
p.D680_K681delFs
c.2038_2041del4
3 papers
NM_001034853.2
p.K681fs
c.2041_2042fs
2 papers
NM_001034853.2
p.G692*
c.2074G>T
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