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.R602H

c.1805G>A

Surrounding Variants

1 paper

NM_000283.4

p.R602C

c.1804C>T

4 papers

NM_000283.4

p.T604I

c.1811C>T

19 papers

NM_000283.4

p.D600N

c.1798G>A

4 papers

NM_000283.4

p.N605S

c.1814A>G

1 paper

NM_000283.4

p.N606S

c.1817A>G

1 paper

NM_000283.4

p.K611fs

c.1831_1832fs

1 paper

NM_000283.4

p.K611Splc

c.1832+1G>C

1 paper

NM_000283.4

p.K611Splc

c.1832+1G>T

4 papers

NM_001145292.2

p.T313I

c.938C>T

NM_000283.4

p.T592I

c.1775C>T

1 paper

NM_000283.4

p.M590fs

c.1768_1769fs

1 paper

NM_000283.4

p.M590delFs

c.1768delA

1 paper

NM_000283.4

p.A589fs

c.1765_1766fs