Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.P335Splc

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
4 papers
NM_006204.4
p.P335Splc
c.1004+1G>A
Surrounding Variants
2 papers
NM_006204.4
p.E329A
c.986A>C
7 papers
NM_006204.4
p.Y323N
c.967T>A
1 paper
NM_006204.4
p.Y323H
c.967T>C
2 papers
NM_006204.4
p.E314*
c.940G>T
1 paper
NM_006204.4
p.E314fs
c.940_941fs
1 paper
NM_006204.4
p.T336M
c.1007C>T
1 paper
NM_006204.4
p.L348delFs
c.1042delT
1 paper
NM_006204.4
p.F357_I358Splc
c.1071+5G>A
7 papers
NM_006204.4
p.R313_E314Splc
c.939+5G>A
1 paper
NM_006204.4
p.R313_E314Splc
c.939+5G>T
1 paper
NM_006204.4
p.R313_E314Splc
c.939+2T>C
1 paper
NM_006204.4
p.R313_E314Splc
c.939+2T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."