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

2 papers

NM_000283.4

p.F353_I354Splc

c.1059+6T>C

Surrounding Variants

1 paper

NM_000283.4

p.F353_I354Splc

c.1059+1G>T

1 paper

NM_000283.4

p.F353S

c.1058T>C

1 paper

NM_000283.4

p.G352V

c.1055G>T

1 paper

NM_000283.4

p.G352S

c.1054G>A

1 paper

NM_000283.4

p.A349fs

c.1045_1046fs

2 papers

NM_000283.4

p.V348G

c.1043T>G

1 paper

NM_000283.4

p.V348insFs

c.1043_1044insCG

1 paper

NM_000283.4

p.V348fs

c.1042_1043fs

23 papers

NM_000283.4

p.Y347*

c.1041C>A

19 papers

NM_000283.4

p.Y347*

c.1041C>G

1 paper

NM_000283.4

p.Y347_V348insFs

c.1041_1042dupCG

1 paper

NM_000283.4

p.L344F

c.1030C>T