Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.E446*

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.E446*
c.1336G>T
Surrounding Variants
1 paper
NM_006204.4
p.N447D
c.1339A>G
3 papers
NM_006204.4
p.M442K
c.1325T>A
1 paper
NM_006204.4
p.Q453L
c.1358A>T
7 papers
NM_006204.4
p.M455V
c.1363A>G
1 paper
NM_006204.4
p.T436S
c.1307C>G
1 paper
NM_006204.4
p.T436fs
c.1306_1307fs
1 paper
NM_006204.4
p.T436S
c.1306A>T
1 paper
NM_006204.4
p.T436delFs
c.1307delC
3 papers
NM_006204.4
p.Q459E
c.1375C>G
1 paper
NM_006204.4
p.Q459*
c.1375C>T
1 paper
NM_006204.4
p.L434delFs
c.1300_1301delTT
2 papers
NM_006204.4
p.S432F
c.1295C>T
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