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

2 papers

NM_000180.4

p.E837_T839delins

c.2511_2516delinsCTGCAT

Surrounding Variants

31 papers

NM_000180.4

p.E837D

c.2511G>C

31 papers

NM_000180.4

p.E837D

c.2511G>T

3 papers

NM_000180.4

p.E837_R838delins

c.2511_2512delinsCA

43 papers

NM_000180.4

p.R838S

c.2512C>A

11 papers

NM_000180.4

p.R838G

c.2512C>G

88 papers

NM_000180.4

p.R838C

c.2512C>T

72 papers

NM_000180.4

p.R838H

c.2513G>A

1 paper

NM_000180.4

p.E837K

c.2509G>A

18 papers

NM_000180.4

p.R838P

c.2513G>C

2 papers

NM_000180.4

p.R838L

c.2513G>T

1 paper

NM_000180.4

p.T839_E841delFs

c.2515_2522del8

2 papers

NM_000180.4

p.T839fs

c.2515_2516fs