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.S224F

c.671C>T

Surrounding Variants

1 paper

NM_000180.4

p.G225R

c.673G>A

2 papers

NM_000180.4

p.A226_T240del15

c.676_719del45

2 papers

NM_000180.4

p.A226_V239del14

c.676_716del42

1 paper

NM_000180.4

p.L223insFs

c.668dupT

1 paper

NM_000180.4

p.L223fs

c.667_668fs

1 paper

NM_000180.4

p.A226V

c.677C>T

1 paper

NM_000180.4

p.D222N

c.664G>A

1 paper

NM_000180.4

p.R227W

c.679C>T

1 paper

NM_000180.4

p.E228*

c.682G>T

1 paper

NM_000180.4

p.A229D

c.686C>A

1 paper

NM_000180.4

p.E219_P220insAT

c.655_659ins6

1 paper

NM_000180.4

p.M218fs

c.652_653fs