Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.E211_V212Splc

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.E211_V212Splc
c.634-2A>G
Surrounding Variants
1 paper
NM_006204.4
p.S214P
c.640T>C
1 paper
NM_006204.4
p.Y216N
c.646T>A
1 paper
NM_006204.4
p.Y216F
c.647A>T
1 paper
NM_006204.4
p.L217P
c.650T>C
1 paper
NM_006204.4
p.V220_S221delFs
c.660_661delGT
1 paper
NM_006204.4
p.V220G
c.659T>G
1 paper
NM_006204.4
p.S221fs
c.661_662fs
1 paper
NM_006204.4
p.R225K
c.674G>A
1 paper
NM_006204.4
p.Y231*
c.693C>A
1 paper
NM_006204.4
p.Y231*
c.693C>G
1 paper
NM_006204.4
p.M232_Q241delFs
c.694_722del29
1 paper
NM_006204.4
p.M232I
c.696G>A
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