Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.S270T

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
8 papers
NM_006204.4
p.S270T
c.808T>A
Surrounding Variants
1 paper
NM_006204.4
p.T267M
c.800C>T
1 paper
NM_006204.4
p.A264V
c.791C>T
4 papers
NM_006204.4
p.R276*
c.826C>T
3 papers
NM_006204.4
p.R276Q
c.827G>A
1 paper
NM_006204.4
p.H262N
c.784C>A
1 paper
NM_006204.4
p.H262D
c.784C>G
1 paper
NM_006204.4
p.H262Y
c.784C>T
2 papers
NM_006204.4
p.S278F
c.833C>T
3 papers
NM_006204.4
p.I279T
c.836T>C
1 paper
NM_006204.4
p.R259Q
c.776G>A
5 papers
NM_006204.4
p.R259*
c.775C>T
2 papers
NM_006204.4
p.K286delFs
c.857delA
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