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.K611Splc

c.1833-1G>C

Surrounding Variants

1 paper

NM_000283.4

p.K611Splc

c.1833-3C>G

1 paper

NM_000283.4

p.Q613*

c.1837C>T

5 papers

NM_000283.4

p.H620fs

c.1858_1859fs

5 papers

NM_000283.4

p.H620fs

c.1858_1859fs

4 papers

NM_000283.4

p.H620R

c.1859A>G

10 papers

NM_000283.4

p.H620delFs

c.1860delC

25 papers

NM_000283.4

p.H620Q

c.1860C>A

25 papers

NM_000283.4

p.H620Q

c.1860C>G

2 papers

NM_000283.4

p.E626*

c.1876G>T

1 paper

NM_000283.4

p.E626D

c.1878G>C

3 papers

NM_000283.4

p.R627G

c.1879C>G

1 paper

NM_000283.4

p.E631*

c.1891G>T