Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.L427M

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.L427M
c.1279C>A
Surrounding Variants
1 paper
NM_000440.3
p.G428C
c.1282G>T
3 papers
NM_000440.3
p.G428D
c.1283G>A
1 paper
NM_000440.3
p.Q425*
c.1273C>T
2 papers
NM_000440.3
p.W429*
c.1286G>A
2 papers
NM_000440.3
p.W429*
c.1287G>A
1 paper
NM_000440.3
p.T424S
c.1271C>G
1 paper
NM_000440.3
p.S430P
c.1288T>C
1 paper
NM_000440.3
p.T424S
c.1270A>T
1 paper
NM_000440.3
p.T424P
c.1270A>C
7 papers
NM_000440.3
p.L423delFs
c.1268delA
8 papers
NM_000440.3
p.L423*
c.1268T>A
2 papers
NM_000440.3
p.E421_S422Splc
c.1264-2A>G
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."