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

1–12 of 669 variants

37 papers

NM_000283.4

p.R560C

c.1678C>T

32 papers

NM_000283.4

p.Q298*

c.892C>T

25 papers

NM_000283.4

p.H557Y

c.1669C>T

25 papers

NM_000283.4

p.H620Q

c.1860C>A

25 papers

NM_000283.4

p.H620Q

c.1860C>G

23 papers

NM_000283.4

p.Y347*

c.1041C>A

22 papers

NM_000283.4

p.H258N

c.772C>A

19 papers

NM_000283.4

p.Y347*

c.1041C>G

19 papers

NM_000283.4

p.Q369_E370Splc

c.1107+3A>G

19 papers

NM_000283.4

p.R552Q

c.1655G>A

19 papers

NM_000283.4

p.D600N

c.1798G>A

19 papers

NM_000283.4

p.K731_V732Splc

c.2193+1G>A