Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.G106D

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.G106D
c.317G>A
Surrounding Variants
1 paper
NM_006204.4
p.G106_A111del6
c.316_332del18
2 papers
NM_006204.4
p.R104Q
c.311G>A
6 papers
NM_006204.4
p.R104W
c.310C>T
3 papers
NM_006204.4
p.E109V
c.326A>T
1 paper
NM_006204.4
p.R102Q
c.305G>A
8 papers
NM_006204.4
p.R102W
c.304C>T
1 paper
NM_006204.4
p.A111V
c.332C>T
1 paper
NM_006204.4
p.C101S
c.302G>C
1 paper
NM_006204.4
p.C101S
c.301T>A
2 papers
NM_006204.4
p.F99L
c.297C>A
2 papers
NM_006204.4
p.F99L
c.297C>G
2 papers
NM_006204.4
p.F99L
c.295T>C
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