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.M590delFs

c.1768delA

Surrounding Variants

1 paper

NM_000283.4

p.M590fs

c.1768_1769fs

1 paper

NM_000283.4

p.A589fs

c.1765_1766fs

1 paper

NM_000283.4

p.A589insFs

c.1765dupG

1 paper

NM_000283.4

p.F588F

c.1764C>T

2 papers

NM_000283.4

p.F588fs

c.1762_1763fs

2 papers

NM_000283.4

p.A587_V591delFs

c.1761_1773del13

4 papers

NM_001145292.2

p.T313I

c.938C>T

NM_000283.4

p.T592I

c.1775C>T

1 paper

NM_000283.4

p.E586G

c.1757A>G

1 paper

NM_000283.4

p.Y582H

c.1744T>C

1 paper

NM_000283.4

p.Y581C

c.1742A>G

1 paper

NM_000283.4

p.Y581F

c.1742A>T

19 papers

NM_000283.4

p.D600N

c.1798G>A