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.L268_C270Fs

c.802_810delinsGCFs

Surrounding Variants

2 papers

NM_000283.4

p.Y267*

c.801C>A

2 papers

NM_000283.4

p.Y267*

c.801C>G

1 paper

NM_000283.4

p.Y267fs

c.799_800fs

1 paper

NM_000283.4

p.A266insFs

c.797_798ins7

6 papers

NM_000283.4

p.R265Q

c.794G>A

12 papers

NM_000283.4

p.C270*

c.810C>A

6 papers

NM_000283.4

p.E271K

c.811G>A

3 papers

NM_000283.4

p.R272Q

c.815G>A

1 paper

NM_000283.4

p.Y262*

c.786C>A

1 paper

NM_000283.4

p.Y262*

c.786C>G

1 paper

NM_000283.4

p.Y262H

c.784T>C

1 paper

NM_000283.4

p.V275delFs

c.823_824delGT