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

4 papers

NM_001522.3

p.E155G

c.464A>G

Surrounding Variants

1 paper

NM_001522.3

p.D157Y

c.469G>T

1 paper

NM_001522.3

p.D157N

c.469G>A

1 paper

NM_001522.3

p.N158S

c.473A>G

1 paper

NM_001522.3

p.I160N

c.479T>A

1 paper

NM_001522.3

p.P170S

c.508C>T

1 paper

NM_001522.3

p.N140I

c.419A>T

1 paper

NM_001522.3

p.G139R

c.415G>C

1 paper

NM_001522.3

p.R174Q

c.521G>A

1 paper

NM_001522.3

p.Q184R

c.551A>G

1 paper

NM_001522.3

p.A120V

c.359C>T

1 paper

NM_001522.3

p.S193L

c.578C>T

1 paper

NM_001522.3

p.Q105H

c.315G>T