Varaico: Literature-Extracted Genetic Variants

Gene:PDC
Variant:p.F32insFs

PDC

258 papers

RefSeq Summary

This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in th...

Pfam Domains

Phosducinaa 1–246UCSCPhosducin

Gene Aliases

HGNC Name

phosducin

HGNC Alias Symbol

MEKA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002597.5
p.F32insFs
c.94_95insT
Surrounding Variants
1 paper
NM_002597.5
p.K33R
c.98A>G
1 paper
NM_002597.5
p.K31_F32insFs
c.93_94insT
1 paper
NM_002597.5
p.R30_K31insFs
c.90_91ins4
1 paper
NM_002597.5
p.Q37H
c.111A>T
2 papers
NM_002597.5
p.D38V
c.113A>T
1 paper
NM_002597.5
p.I26T
c.77T>C
1 paper
NM_002597.5
p.D40A
c.119A>C
1 paper
NM_002597.5
p.S41P
c.121T>C
1 paper
NM_002597.5
p.G24E
c.71G>A
1 paper
NM_002597.5
p.G24*
c.70G>T
1 paper
NM_002597.5
p.P43A
c.127C>G
1 paper
NM_002597.5
p.E48G
c.143A>G
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