Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.H602P

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.H602P
c.1805A>C
Surrounding Variants
7 papers
NM_006204.4
p.H602L
c.1805A>T
1 paper
NM_006204.4
p.T609delFs
c.1827delC
1 paper
NM_006204.4
p.M595I
c.1785G>A
1 paper
NM_006204.4
p.M595I
c.1785G>C
1 paper
NM_006204.4
p.M595I
c.1785G>T
1 paper
NM_006204.4
p.M595R
c.1784T>G
1 paper
NM_006204.4
p.N610S
c.1829A>G
1 paper
NM_006204.4
p.A592D
c.1775C>A
9 papers
NM_006204.4
p.E591K
c.1771G>A
2 papers
NM_006204.4
p.D589G
c.1766A>G
1 paper
NM_006204.4
p.Y587H
c.1759T>C
1 paper
NM_006204.4
p.Y586*
c.1758C>A
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