Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.D670G

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
20 papers
NM_000440.3
p.D670G
c.2009A>G
Surrounding Variants
1 paper
NM_000440.3
p.L671F
c.2011C>T
2 papers
NM_000440.3
p.L671P
c.2012T>C
1 paper
NM_000440.3
p.A672V
c.2015C>T
1 paper
NM_000440.3
p.A668T
c.2002G>A
1 paper
NM_000440.3
p.K676Splc
c.2027+1G>T
1 paper
NM_000440.3
p.K676Splc
c.2027+1G>C
1 paper
NM_000440.3
p.K676Splc
c.2027+2T>G
2 papers
NM_000440.3
p.K676Splc
c.2027+5G>T
2 papers
NM_000440.3
p.I659fs
c.1975_1976fs
2 papers
NM_000440.3
p.R652_A658insFs
c.1955_1974dup20
1 paper
NM_000440.3
p.S643_H657delins
c.1927_1969delinsG
1 paper
NM_000440.3
p.S643_H657Fs
c.1927_1969delinsGGFs
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