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.Y582H

c.1744T>C

Surrounding Variants

1 paper

NM_000283.4

p.Y581C

c.1742A>G

1 paper

NM_000283.4

p.Y581F

c.1742A>T

1 paper

NM_000283.4

p.L578Fs

c.1733_1734delinsCFs

1 paper

NM_000283.4

p.L578fs

c.1732_1733fs

1 paper

NM_000283.4

p.E586G

c.1757A>G

2 papers

NM_000283.4

p.A587_V591delFs

c.1761_1773del13

10 papers

NM_000283.4

p.G576D

c.1727G>A

6 papers

NM_000283.4

p.G576S

c.1726G>A

1 paper

NM_000283.4

p.G576C

c.1726G>T

2 papers

NM_000283.4

p.F588fs

c.1762_1763fs

1 paper

NM_000283.4

p.T575T

c.1725C>T

1 paper

NM_000283.4

p.A589insFs

c.1765dupG