Varaico: Literature-Extracted Genetic Variants

GUCY2D

557 papers

RefSeq Summary

This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal si...

Pfam Domains

ANF_receptoraa 72–399UCSCReceptor family ligand binding region

PK_Tyr_Ser-Thraa 550–805UCSCProtein tyrosine and serine/threonine kinase

HNOBAaa 809–865UCSCHeme NO binding associated

Guanylate_cycaa 871–1058UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

guanylate cyclase 2D, retinal

HGNC Previous Symbols

CORD6; GUC2D; GUC1A4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000180.4

p.C780R

c.2338T>C

Surrounding Variants

2 papers

NM_000180.4

p.E779K

c.2335G>A

13 papers

NM_000180.4

p.L782H

c.2345T>A

2 papers

NM_000180.4

p.L783P

c.2348T>C

4 papers

NM_000180.4

p.M784R

c.2351T>G

1 paper

NM_000180.4

p.Q786*

c.2356C>T

1 paper

NM_000180.4

p.M773T

c.2318T>C

1 paper

NM_000180.4

p.M773L

c.2317A>C

1 paper

NM_000180.4

p.M773L

c.2317A>T

1 paper

NM_000180.4

p.C787G

c.2359T>G

1 paper

NM_000180.4

p.W788*

c.2363G>A

1 paper

NM_000180.4

p.W788*

c.2364G>A

1 paper

NM_000180.4

p.W788C

c.2364G>C