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.Q694H

c.2082G>C

Surrounding Variants

1 paper

NM_000180.4

p.Q694H

c.2082G>T

2 papers

NM_000180.4

p.Q694*

c.2080C>T

2 papers

NM_000180.4

p.L697_E699del3

c.2089_2096del9

22 papers

NM_000180.4

p.P701S

c.2101C>T

1 paper

NM_000180.4

p.G688R

c.2062G>A

1 paper

NM_000180.4

p.G688R

c.2062G>C

1 paper

NM_000180.4

p.G688W

c.2062G>T

2 papers

NM_000180.4

p.H687Y

c.2059C>T

1 paper

NM_000180.4

p.D705Splc

c.2113+1G>A

2 papers

NM_000180.4

p.D705Splc

c.2113+2T>C

1 paper

NM_000180.4

p.I682T

c.2045T>C

1 paper

NM_000180.4

p.L680H

c.2039T>A