Varaico: Literature-Extracted Genetic Variants

GUCY2F

95 papers

RefSeq Summary

The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation ...

Pfam Domains

ANF_receptoraa 71–414UCSCReceptor family ligand binding region

PK_Tyr_Ser-Thraa 583–809UCSCProtein tyrosine and serine/threonine kinase

HNOBAaa 814–869UCSCHeme NO binding associated

Guanylate_cycaa 875–1062UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

guanylate cyclase 2F, retinal

HGNC Alias Symbols

GUC2DL; GC-F; RetGC-2; ROS-GC2; CYGF

Papers

RefSeq ID

Protein change

DNA change

1–12 of 108 variants

4 papers

NM_001522.3

p.E155G

c.464A>G

4 papers

NM_001522.3

p.L284P

c.851T>C

3 papers

NM_001522.3

p.R230W

c.688C>T

3 papers

NM_001522.3

p.R296Q

c.887G>A

3 papers

NM_001522.3

p.Y308C

c.923A>G

3 papers

NM_001522.3

p.R628*

c.1882C>T

3 papers

NM_001522.3

p.E794K

c.2380G>A

2 papers

NM_001522.3

p.S40C

c.119C>G

2 papers

NM_001522.3

p.R305W

c.913C>T

2 papers

NM_001522.3

p.R432C

c.1294C>T

2 papers

NM_001522.3

p.G434R

c.1300G>C

2 papers

NM_001522.3

p.G434R

c.1300G>A