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.E640Q

c.1918G>C

Surrounding Variants

1 paper

NM_000283.4

p.E640K

c.1918G>A

1 paper

NM_000283.4

p.E640fs

c.1918_1919fs

2 papers

NM_000283.4

p.E640_T641Splc

c.1920+1G>A

9 papers

NM_000283.4

p.E640_T641Splc

c.1920+2T>C

1 paper

NM_000283.4

p.S638L

c.1913C>T

1 paper

NM_000283.4

p.F632L

c.1896T>A

1 paper

NM_000283.4

p.F632L

c.1896T>G

1 paper

NM_000283.4

p.F632S

c.1895T>C

1 paper

NM_000283.4

p.F632L

c.1894T>C

1 paper

NM_000283.4

p.E631*

c.1891G>T

3 papers

NM_000283.4

p.R627G

c.1879C>G

1 paper

NM_000283.4

p.E626D

c.1878G>C