Varaico: Literature-Extracted Genetic Variants

PDE6B

550 papers

RefSeq Summary

Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and ...

Pfam Domains

GAFaa 71–218UCSCGAF domain

GAFaa 252–429UCSCGAF domain

PDEase_Iaa 556–800UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 6B

HGNC Previous Symbol

PDEB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000283.4

p.R309P

c.926G>C

Surrounding Variants

2 papers

NM_000283.4

p.G308S

c.922G>A

1 paper

NM_000283.4

p.T305T

c.915G>A

1 paper

NM_000283.4

p.P303R

c.908C>G

1 paper

NM_000283.4

p.G302D

c.905G>A

1 paper

NM_000283.4

p.G302A

c.905G>C

1 paper

NM_000283.4

p.P299P

c.897G>A

32 papers

NM_000283.4

p.Q298*

c.892C>T

1 paper

NM_000283.4

p.S297insFs

c.891dupC

1 paper

NM_000283.4

p.E296*

c.886G>T

1 paper

NM_000283.4

p.L293P

c.878T>C

1 paper

NM_000283.4

p.V292M

c.874G>A

5 papers

NM_000283.4

p.W290*

c.870G>A