Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.L469_K470Splc

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
14 papers
NM_000440.3
p.L469_K470Splc
c.1407+1G>C
Surrounding Variants
2 papers
NM_000440.3
p.L469_K470Splc
c.1407+1G>A
1 paper
NM_000440.3
p.D461N
c.1381G>A
5 papers
NM_000440.3
p.K455*
c.1363A>T
1 paper
NM_000440.3
p.K455E
c.1363A>G
1 paper
NM_000440.3
p.V454delFs
c.1361delA
2 papers
NM_000440.3
p.I453delFs
c.1358_1359delTA
1 paper
NM_000440.3
p.V454fs
c.1360_1361fs
2 papers
NM_000440.3
p.I453fs
c.1357_1358fs
1 paper
NM_000440.3
p.Q451R
c.1352A>G
2 papers
NM_000440.3
p.Q451*
c.1351C>T
1 paper
NM_000440.3
p.F450S
c.1349T>C
1 paper
NM_000440.3
p.I449L
c.1345A>C
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