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.R552delFs

c.1654delC

Surrounding Variants

1 paper

NM_000283.4

p.Y551N

c.1651T>A

1 paper

NM_000283.4

p.R552fs

c.1654_1655fs

19 papers

NM_000283.4

p.R552Q

c.1655G>A

1 paper

NM_000283.4

p.S548N

c.1643G>A

1 paper

NM_000283.4

p.Y556C

c.1667A>G

25 papers

NM_000283.4

p.H557Y

c.1669C>T

5 papers

NM_000283.4

p.H557R

c.1670A>G

1 paper

NM_000283.4

p.S546_I547del0

c.1636_1641del6

1 paper

NM_000283.4

p.W559R

c.1675T>A

1 paper

NM_000283.4

p.W559R

c.1675T>C

37 papers

NM_000283.4

p.R560C

c.1678C>T

1 paper

NM_000283.4

p.R560H

c.1679G>A