Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.M574T

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.M574T
c.1721T>C
Surrounding Variants
2 papers
NM_006204.4
p.G571R
c.1711G>A
2 papers
NM_006204.4
p.G571R
c.1711G>C
2 papers
NM_006204.4
p.V570M
c.1708G>A
1 paper
NM_006204.4
p.F568C
c.1703T>G
9 papers
NM_006204.4
p.R565Q
c.1694G>A
1 paper
NM_006204.4
p.R565W
c.1693C>T
1 paper
NM_006204.4
p.W564R
c.1690T>C
3 papers
NM_006204.4
p.Y561*
c.1683C>A
3 papers
NM_006204.4
p.Y561*
c.1683C>G
2 papers
NM_006204.4
p.Y561insFs
c.1682_1683insA
5 papers
NM_006204.4
p.R557Q
c.1670G>A
1 paper
NM_006204.4
p.R557*
c.1669C>T
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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."