Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.L87fs

PDE6C

232 papers

RefSeq Summary

This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene a...

Pfam Domains

GAFaa 75–224UCSCGAF domain
GAFaa 256–433UCSCGAF domain
PDEase_Iaa 561–805UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 6C

HGNC Alias Symbols

PDEA2; ACHM5; COD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006204.4
p.L87fs
c.259_260fs
Surrounding Variants
2 papers
NM_006204.4
p.A88_M98del11
c.262_293del33
1 paper
NM_006204.4
p.L84L
c.252G>A
1 paper
NM_006204.4
p.L84P
c.251T>C
1 paper
NM_006204.4
p.R82R
c.246G>A
1 paper
NM_006204.4
p.G79R
c.235G>A
1 paper
NM_006204.4
p.G79R
c.235G>C
1 paper
NM_006204.4
p.R95H
c.284G>A
1 paper
NM_006204.4
p.T75fs
c.223_224fs
2 papers
NM_006204.4
p.F99L
c.295T>C
2 papers
NM_006204.4
p.F99L
c.297C>A
2 papers
NM_006204.4
p.F99L
c.297C>G
1 paper
NM_006204.4
p.G74fs
c.220_221fs
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."