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.A243V

c.728C>T

Surrounding Variants

1 paper

NM_000283.4

p.A243T

c.727G>A

1 paper

NM_000283.4

p.N244H

c.730A>C

1 paper

NM_000283.4

p.N244fs

c.730_731fs

1 paper

NM_000283.4

p.L240Q

c.719T>A

1 paper

NM_000283.4

p.V246A

c.737T>C

1 paper

NM_000283.4

p.L240M

c.718C>A

3 papers

NM_000283.4

p.F247I

c.739T>A

1 paper

NM_000283.4

p.L239L

c.715C>T

1 paper

NM_000283.4

p.E248A

c.743A>C

3 papers

NM_000283.4

p.V238fs

c.712_713fs

1 paper

NM_000283.4

p.V238L

c.712G>T

3 papers

NM_000283.4

p.V238delFs

c.712delG