Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.F164L

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
2 papers
NM_006204.4
p.F164L
c.492T>A
Surrounding Variants
2 papers
NM_006204.4
p.F164L
c.492T>G
2 papers
NM_006204.4
p.F164L
c.490T>C
1 paper
NM_006204.4
p.D166delFs
c.497delA
2 papers
NM_006204.4
p.D166fs
c.496_497fs
2 papers
NM_006204.4
p.N161fs
c.481_482fs
4 papers
NM_006204.4
p.K160_N161Splc
c.481-1G>A
1 paper
NM_006204.4
p.D169A
c.506A>C
1 paper
NM_006204.4
p.T172A
c.514A>G
6 papers
NM_006204.4
p.K160_N161Splc
c.481-12T>A
1 paper
NM_006204.4
p.G173R
c.517G>A
1 paper
NM_006204.4
p.G173R
c.517G>C
1 paper
NM_006204.4
p.T176A
c.526A>G
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