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

2 papers

NM_000180.4

p.R670W

c.2008C>T

Surrounding Variants

3 papers

NM_000180.4

p.C672Y

c.2015G>A

1 paper

NM_000180.4

p.R666R

c.1996C>A

3 papers

NM_000180.4

p.R666W

c.1996C>T

2 papers

NM_000180.4

p.H664Q

c.1992T>A

2 papers

NM_000180.4

p.H664Q

c.1992T>G

3 papers

NM_000180.4

p.H664P

c.1991A>C

2 papers

NM_000180.4

p.H664R

c.1991A>G

1 paper

NM_000180.4

p.D675D

c.2025T>C

1 paper

NM_000180.4

p.R677*

c.2029A>T

1 paper

NM_000180.4

p.V662M

c.1984G>A

2 papers

NM_000180.4

p.G661V

c.1982G>T

1 paper

NM_000180.4

p.G661C

c.1981G>T