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

19 papers

NM_000283.4

p.K731_V732Splc

c.2193+1G>A

Surrounding Variants

1 paper

NM_000283.4

p.K731_V732Splc

c.2193+1G>C

2 papers

NM_000283.4

p.K731_V732Splc

c.2193+1G>T

1 paper

NM_000283.4

p.K731N

c.2193G>C

1 paper

NM_000283.4

p.K731N

c.2193G>T

1 paper

NM_000283.4

p.K731_V732Splc

c.2193+5G>A

1 paper

NM_000283.4

p.V728delFs

c.2184delC

1 paper

NM_000283.4

p.E727fs

c.2179_2180fs

1 paper

NM_000283.4

p.W726G

c.2176T>G

1 paper

NM_000283.4

p.E727delFs

c.2179delG

1 paper

NM_000283.4

p.K724Q

c.2170A>C

5 papers

NM_000283.4

p.D718N

c.2152G>A

4 papers

NM_000283.4

p.D718Y

c.2152G>T