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

22 papers

NM_000283.4

p.H258N

c.772C>A

Surrounding Variants

1 paper

NM_000283.4

p.H258D

c.772C>G

1 paper

NM_000283.4

p.H258H

c.774C>T

1 paper

NM_000283.4

p.Q256H

c.768G>T

1 paper

NM_000283.4

p.A260T

c.778G>A

1 paper

NM_000283.4

p.F261_Y262del1

c.782_784delTCT

2 papers

NM_000283.4

p.E254K

c.760G>A

1 paper

NM_000283.4

p.E254*

c.760G>T

1 paper

NM_000283.4

p.Y262H

c.784T>C

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.D252delFs

c.756delC

1 paper

NM_000283.4

p.D252N

c.754G>A