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

6 papers

NM_000180.4

p.E103K

c.307G>A

Surrounding Variants

1 paper

NM_000180.4

p.E103Q

c.307G>C

3 papers

NM_000180.4

p.E103*

c.307G>T

4 papers

NM_000180.4

p.E103V

c.308A>T

1 paper

NM_000180.4

p.P104_C105insFs

c.312_313dupTT

1 paper

NM_000180.4

p.C105fs

c.313_314fs

10 papers

NM_000180.4

p.C105Y

c.314G>A

1 paper

NM_000180.4

p.R106W

c.316C>T

3 papers

NM_000180.4

p.A99T

c.295G>A

3 papers

NM_000180.4

p.V98G

c.293T>G

1 paper

NM_000180.4

p.V98I

c.292G>A

1 paper

NM_000180.4

p.E97K

c.289G>A

2 papers

NM_000180.4

p.E97Q

c.289G>C