Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D

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
1–12 of 944 variants
88 papers
NM_000180.4
p.R838C
c.2512C>T
72 papers
NM_000180.4
p.R838H
c.2513G>A
49 papers
NM_000180.4
p.R768W
c.2302C>T
43 papers
NM_000180.4
p.R838S
c.2512C>A
31 papers
NM_000180.4
p.E837D
c.2511G>C
31 papers
NM_000180.4
p.E837D
c.2511G>T
23 papers
NM_000180.4
p.P130delFs
c.389delC
23 papers
NM_000180.4
p.T839M
c.2516C>T
22 papers
NM_000180.4
p.P701S
c.2101C>T
20 papers
NM_000180.4
p.A52S
c.154G>T
20 papers
NM_000180.4
p.F565S
c.1694T>C
18 papers
NM_000180.4
p.R838P
c.2513G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."