Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.A262T

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
7 papers
NM_000440.3
p.A262T
c.784G>A
Surrounding Variants
1 paper
NM_000440.3
p.Q258delins
c.774delinsAAGC
1 paper
NM_000440.3
p.V266insFs
c.797_798ins7
1 paper
NM_000440.3
p.R257Q
c.770G>A
17 papers
NM_000440.3
p.R257*
c.769C>T
1 paper
NM_000440.3
p.A268D
c.803C>A
1 paper
NM_000440.3
p.D254G
c.761A>G
1 paper
NM_000440.3
p.D254Y
c.760G>T
1 paper
NM_000440.3
p.T253M
c.758C>T
1 paper
NM_000440.3
p.L270L
c.810C>A
1 paper
NM_000440.3
p.F269_L270delFs
c.805_809del5
2 papers
NM_000440.3
p.Y275fs
c.823_824fs
1 paper
NM_000440.3
p.Y275delFs
c.823_824delTA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."