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.E97K

c.289G>A

Surrounding Variants

2 papers

NM_000180.4

p.E97Q

c.289G>C

1 paper

NM_000180.4

p.F96L

c.288C>A

1 paper

NM_000180.4

p.F96L

c.288C>G

1 paper

NM_000180.4

p.V98I

c.292G>A

1 paper

NM_000180.4

p.F96L

c.286T>C

3 papers

NM_000180.4

p.V98G

c.293T>G

3 papers

NM_000180.4

p.A99T

c.295G>A

1 paper

NM_000180.4

p.G92fs

c.274_275fs

1 paper

NM_000180.4

p.A91insFs

c.273dupA

6 papers

NM_000180.4

p.E103K

c.307G>A

1 paper

NM_000180.4

p.E103Q

c.307G>C

1 paper

NM_000180.4

p.A91_G92insC

c.271_275ins3