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.M1delFs

c.1delA

Surrounding Variants

1 paper

NM_000180.4

p.M1Fs

c.1delinsAAFs

1 paper

NM_000180.4

p.M1insFs

c.2_3insT

1 paper

NM_000180.4

p.M1insFs

c.2_3insTT

2 papers

NM_000180.4

p.M1V

c.1A>G

2 papers

NM_000180.4

p.M1K

c.2T>A

2 papers

NM_000180.4

p.M1T

c.2T>C

4 papers

NM_000180.4

p.M1I

c.3G>A

4 papers

NM_000180.4

p.M1I

c.3G>C

3 papers

NM_000180.4

p.M1_T2insFs

c.3_4insT

4 papers

NM_000180.4

p.M1I

c.3G>T

1 paper

NM_000180.4

p.T2_A3insT

c.4_8ins3

1 paper

NM_000180.4

p.T2insFs

c.4_5ins4