Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.I78N

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.I78N
c.233T>A
Surrounding Variants
1 paper
NM_000440.3
p.I78S
c.233T>G
1 paper
NM_000440.3
p.I78T
c.233T>C
1 paper
NM_000440.3
p.C77F
c.230G>T
1 paper
NM_000440.3
p.K84M
c.251A>T
1 paper
NM_000440.3
p.N71S
c.212A>G
1 paper
NM_000440.3
p.E70D
c.210G>T
1 paper
NM_000440.3
p.E70D
c.210G>C
4 papers
NM_000440.3
p.Q69*
c.205C>T
1 paper
NM_000440.3
p.D63_F68del6
c.187_203del18
1 paper
NM_000440.3
p.L88H
c.263T>A
2 papers
NM_000440.3
p.R66W
c.196C>T
1 paper
NM_000440.3
p.A91T
c.271G>A
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