Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.M712T

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
1 paper
NM_000440.3
p.M712T
c.2135T>C
Surrounding Variants
1 paper
NM_000440.3
p.M712Splc
c.2135+1G>T
1 paper
NM_000440.3
p.I710T
c.2129T>C
4 papers
NM_000440.3
p.E709K
c.2125G>A
1 paper
NM_000440.3
p.K708M
c.2123A>T
1 paper
NM_000440.3
p.Y700_K708delFs
c.2100_2122del23
4 papers
NM_000440.3
p.R707W
c.2119C>T
1 paper
NM_000440.3
p.Y700*
c.2100C>G
2 papers
NM_000440.3
p.Y700fs
c.2098_2099fs
1 paper
NM_000440.3
p.Y700*
c.2100C>A
2 papers
NM_000440.3
p.Y700insFs
c.2098dupT
1 paper
NM_000440.3
p.W697_Q699del3
c.2089_2096del9
1 paper
NM_000440.3
p.Y700fs
c.2098_2099fs
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