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.E794K

c.2380G>A

Surrounding Variants

1 paper

NM_001522.3

p.A796V

c.2387C>T

1 paper

NM_001522.3

p.D822Y

c.2464G>T

1 paper

NM_001522.3

p.R826R

c.2478G>T

1 paper

NM_001522.3

p.E841*

c.2521G>T

1 paper

NM_001522.3

p.E841K

c.2521G>A

1 paper

NM_001522.3

p.R842W

c.2524C>T

1 paper

NM_001522.3

p.M860I

c.2580G>T

1 paper

NM_001522.3

p.M860I

c.2580G>C

1 paper

NM_001522.3

p.M860I

c.2580G>A

1 paper

NM_001522.3

p.R746G

c.2236C>G

1 paper

NM_001522.3

p.V745F

c.2233G>T

1 paper

NM_001522.3

p.R725G

c.2173A>G