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

5 papers

NM_000283.4

p.H337R

c.1010A>G

Surrounding Variants

1 paper

NM_000283.4

p.H337_W338ins12

c.1009_1013ins36

1 paper

NM_000283.4

p.W338_A339ins12

c.1012_1016ins36

1 paper

NM_000283.4

p.D336Y

c.1006G>T

2 papers

NM_000283.4

p.A339_F353del15

c.1015_1058del45

1 paper

NM_000283.4

p.S334*

c.1001C>A

1 paper

NM_000283.4

p.S334*

c.1001C>G

1 paper

NM_000283.4

p.L340P

c.1019T>C

1 paper

NM_000283.4

p.A341delFs

c.1023delC

1 paper

NM_000283.4

p.A341Fs

c.1022_1023delinsAFs

1 paper

NM_000283.4

p.L344F

c.1030C>T

1 paper

NM_000283.4

p.Y347_V348insFs

c.1041_1042dupCG

23 papers

NM_000283.4

p.Y347*

c.1041C>A