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.H800delFs

c.2399_2400delAC

Surrounding Variants

1 paper

NM_000180.4

p.D799G

c.2396A>G

1 paper

NM_000180.4

p.H800fs

c.2398_2399fs

1 paper

NM_000180.4

p.D799_H800insFs

c.2395_2398dup4

2 papers

NM_000180.4

p.T801S

c.2401A>T

1 paper

NM_000180.4

p.M798R

c.2393T>G

2 papers

NM_000180.4

p.D803H

c.2407G>C

10 papers

NM_000180.4

p.R795Q

c.2384G>A

1 paper

NM_000180.4

p.R795P

c.2384G>C

4 papers

NM_000180.4

p.R795L

c.2384G>T

6 papers

NM_000180.4

p.R795W

c.2383C>T

1 paper

NM_000180.4

p.L804P

c.2411T>C

1 paper

NM_000180.4

p.E793fs

c.2377_2378fs