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.R628*

c.1882C>T

Surrounding Variants

2 papers

NM_001522.3

p.R628Q

c.1883G>A

1 paper

NM_001522.3

p.C626Y

c.1877G>A

1 paper

NM_001522.3

p.D639Y

c.1915G>T

2 papers

NM_001522.3

p.K672T

c.2015A>C

1 paper

NM_001522.3

p.V677L

c.2029G>T

1 paper

NM_001522.3

p.V677L

c.2029G>C

1 paper

NM_001522.3

p.D693N

c.2077G>A

1 paper

NM_001522.3

p.E708D

c.2124A>C