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

4 papers

NM_000180.4

p.Q847L

c.2540A>T

Surrounding Variants

5 papers

NM_000180.4

p.Q847_K848delins

c.2540_2542delinsTCC

5 papers

NM_000180.4

p.K848Q

c.2542A>C

6 papers

NM_000180.4

p.K846N

c.2538G>C

6 papers

NM_000180.4

p.K846N

c.2538G>T

5 papers

NM_000180.4

p.T849A

c.2545A>G

2 papers

NM_000180.4

p.E845G

c.2534A>G

1 paper

NM_000180.4

p.T849R

c.2546C>G

1 paper

NM_000180.4

p.D850N

c.2548G>A

1 paper

NM_000180.4

p.L844P

c.2531T>C

1 paper

NM_000180.4

p.E843Q

c.2527G>C

2 papers

NM_000180.4

p.L852P

c.2555T>C

1 paper

NM_000180.4

p.E841G

c.2522A>G