Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.M440I

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.M440I
c.1320G>T
Surrounding Variants
1 paper
NM_000440.3
p.M440I
c.1320G>C
1 paper
NM_000440.3
p.M440I
c.1320G>A
3 papers
NM_000440.3
p.R446fs
c.1336_1337fs
2 papers
NM_000440.3
p.R446delFs
c.1336delT
1 paper
NM_000440.3
p.L432L
c.1296A>G
1 paper
NM_000440.3
p.I449L
c.1345A>C
1 paper
NM_000440.3
p.F450S
c.1349T>C
2 papers
NM_000440.3
p.Q451*
c.1351C>T
1 paper
NM_000440.3
p.S430P
c.1288T>C
1 paper
NM_000440.3
p.Q451R
c.1352A>G
2 papers
NM_000440.3
p.W429*
c.1287G>A
2 papers
NM_000440.3
p.W429*
c.1286G>A
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