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.R812Q

c.2435G>A

Surrounding Variants

1 paper

NM_000180.4

p.R812G

c.2434C>G

1 paper

NM_000180.4

p.T814delFs

c.2441_2442delCG

1 paper

NM_000180.4

p.I808M

c.2424C>G

1 paper

NM_000180.4

p.I816T

c.2447T>C

2 papers

NM_000180.4

p.I816S

c.2447T>G

1 paper

NM_000180.4

p.S819insFs

c.2456dupC

1 paper

NM_000180.4

p.M820fs

c.2458_2459fs

3 papers

NM_000180.4

p.L804_F805Splc

c.2413-1G>C

1 paper

NM_000180.4

p.L804_F805Splc

c.2413-1G>T

2 papers

NM_000180.4

p.L821P

c.2462T>C

1 paper

NM_000180.4

p.R822_M823insFs

c.2465_2468dup4

6 papers

NM_000180.4

p.R822P

c.2465G>C