Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.R557*

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.R557*
c.1669C>T
Surrounding Variants
5 papers
NM_006204.4
p.R557Q
c.1670G>A
1 paper
NM_006204.4
p.Y556fs
c.1666_1667fs
1 paper
NM_006204.4
p.G555W
c.1663G>T
1 paper
NM_006204.4
p.R553delFs
c.1659delG
2 papers
NM_006204.4
p.Y561insFs
c.1682_1683insA
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.T551I
c.1652C>T
1 paper
NM_006204.4
p.W564R
c.1690T>C
4 papers
NM_006204.4
p.M549T
c.1646T>C
1 paper
NM_006204.4
p.R565W
c.1693C>T
9 papers
NM_006204.4
p.R565Q
c.1694G>A
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