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

Selected Variant

3 papers

NM_001522.3

p.Y308C

c.923A>G

Surrounding Variants

2 papers

NM_001522.3

p.R305W

c.913C>T

1 paper

NM_001522.3

p.N300K

c.900C>G

1 paper

NM_001522.3

p.N300K

c.900C>A

1 paper

NM_001522.3

p.E317K

c.949G>A

3 papers

NM_001522.3

p.R296Q

c.887G>A

1 paper

NM_001522.3

p.Y324H

c.970T>C

1 paper

NM_001522.3

p.Y286H

c.856T>C

1 paper

NM_001522.3

p.L285F

c.853C>T

4 papers

NM_001522.3

p.L284P

c.851T>C

1 paper

NM_001522.3

p.G334A

c.1001G>C

1 paper

NM_001522.3

p.Y281H

c.841T>C

1 paper

NM_001522.3

p.T275S

c.823A>T