Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.R102S

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
37 papers
NM_000440.3
p.R102S
c.304C>A
Surrounding Variants
15 papers
NM_000440.3
p.R102C
c.304C>T
16 papers
NM_000440.3
p.R102H
c.305G>A
1 paper
NM_000440.3
p.R100P
c.299G>C
2 papers
NM_000440.3
p.R100Q
c.299G>A
3 papers
NM_000440.3
p.R100W
c.298C>T
1 paper
NM_000440.3
p.G104D
c.311G>A
3 papers
NM_000440.3
p.A106T
c.316G>A
1 paper
NM_000440.3
p.F97delFs
c.291delG
1 paper
NM_000440.3
p.F97fs
c.289_290fs
1 paper
NM_000440.3
p.L108L
c.322C>T
3 papers
NM_000440.3
p.S95R
c.285C>G
3 papers
NM_000440.3
p.S95R
c.285C>A
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