Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.E797K

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.E797K
c.2389G>A
Surrounding Variants
2 papers
NM_006204.4
p.R793W
c.2377C>T
7 papers
NM_006204.4
p.E790K
c.2368G>A
1 paper
NM_006204.4
p.L805P
c.2414T>C
1 paper
NM_006204.4
p.N808K
c.2424C>G
1 paper
NM_006204.4
p.V810delFs
c.2428delG
5 papers
NM_006204.4
p.Y819*
c.2457T>A
4 papers
NM_006204.4
p.Y819*
c.2457T>G
1 paper
NM_006204.4
p.A821G
c.2462C>G
1 paper
NM_006204.4
p.K822T
c.2465A>C
1 paper
NM_006204.4
p.K822N
c.2466G>C
1 paper
NM_006204.4
p.I826T
c.2477T>C
1 paper
NM_006204.4
p.E827K
c.2479G>A
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