Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.E71*

PDE6C

232 papers

RefSeq Summary

This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene a...

Pfam Domains

GAFaa 75–224UCSCGAF domain
GAFaa 256–433UCSCGAF domain
PDEase_Iaa 561–805UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 6C

HGNC Alias Symbols

PDEA2; ACHM5; COD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006204.4
p.E71*
c.211G>T
Surrounding Variants
1 paper
NM_006204.4
p.Q70K
c.208C>A
1 paper
NM_006204.4
p.Q70*
c.208C>T
1 paper
NM_006204.4
p.E72K
c.214G>A
1 paper
NM_006204.4
p.E72fs
c.214_215fs
2 papers
NM_006204.4
p.E72insFs
c.216dupG
1 paper
NM_006204.4
p.G74delFs
c.221delG
1 paper
NM_006204.4
p.V69M
c.205G>A
1 paper
NM_006204.4
p.V69L
c.205G>C
2 papers
NM_006204.4
p.V69L
c.205G>T
1 paper
NM_006204.4
p.G74fs
c.220_221fs
1 paper
NM_006204.4
p.T75fs
c.223_224fs
1 paper
NM_006204.4
p.L63delFs
c.189delG
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