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

1 paper

NM_001522.3

p.P347L

c.1040C>T

Surrounding Variants

1 paper

NM_001522.3

p.S355S

c.1065A>T

1 paper

NM_001522.3

p.Q380H

c.1140G>T

1 paper

NM_001522.3

p.Q380H

c.1140G>C

1 paper

NM_001522.3

p.R383G

c.1147A>G

1 paper

NM_001522.3

p.L393F

c.1179G>T

1 paper

NM_001522.3

p.L393F

c.1179G>C

2 papers

NM_001522.3

p.R432C

c.1294C>T

1 paper

NM_001522.3

p.F433F

c.1299C>T

2 papers

NM_001522.3

p.G434R

c.1300G>C

2 papers

NM_001522.3

p.G434R

c.1300G>A

1 paper

NM_001522.3

p.G442S

c.1324G>A

1 paper

NM_001522.3

p.D465H

c.1393G>C