Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.K676Splc

PDE6A

325 papers

RefSeq Summary

This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed ...

Pfam Domains

GAFaa 73–222UCSCGAF domain
GAFaa 254–431UCSCGAF domain
PDEase_Iaa 558–802UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 6A

HGNC Previous Symbol

PDEA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_000440.3
p.K676Splc
c.2028-1G>A
Surrounding Variants
3 papers
NM_000440.3
p.K677fs
c.2029_2030fs
1 paper
NM_000440.3
p.F681Y
c.2042T>A
30 papers
NM_000440.3
p.V685M
c.2053G>A
1 paper
NM_000440.3
p.D686N
c.2056G>A
1 paper
NM_000440.3
p.Y691*
c.2073T>G
1 paper
NM_000440.3
p.Y691*
c.2073T>A
1 paper
NM_000440.3
p.Y691delFs
c.2072_2073delAT
1 paper
NM_000440.3
p.E696K
c.2086G>A
1 paper
NM_000440.3
p.T698insFs
c.2093_2094ins5
1 paper
NM_000440.3
p.Q699R
c.2096A>G
1 paper
NM_000440.3
p.Y700fs
c.2098_2099fs
2 papers
NM_000440.3
p.Y700insFs
c.2098dupT
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