Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
1 paper
NM_006204.4
p.M1insFs
c.2dupT
1 paper
NM_006204.4
p.M1Fs
c.1delinsAAFs
1 paper
NM_006204.4
p.V9V
c.27G>T
1 paper
NM_006204.4
p.F24F
c.72T>C
1 paper
NM_006204.4
p.R26delFs
c.78delG
3 papers
NM_006204.4
p.K27fs
c.79_80fs
1 paper
NM_006204.4
p.L28insFs
c.83_84insA
13 papers
NM_006204.4
p.R29W
c.85C>T
2 papers
NM_006204.4
p.V30_L33delFs
c.88_98del11
2 papers
NM_006204.4
p.V30fs
c.88_89fs
1 paper
NM_006204.4
p.S40N
c.119G>A
1 paper
NM_006204.4
p.V56V
c.168G>T
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