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.L831_E832delins

c.2493_2495delinsGGC

Surrounding Variants

3 papers

NM_000180.4

p.L831P

c.2492T>C

1 paper

NM_000180.4

p.I835_L842ins2

c.2503_2526dup24

1 paper

NM_000180.4

p.R836W

c.2506C>T

1 paper

NM_000180.4

p.S828P

c.2482T>C

1 paper

NM_000180.4

p.Y827*

c.2481C>A

1 paper

NM_000180.4

p.Y827*

c.2481C>G

1 paper

NM_000180.4

p.E837K

c.2509G>A

2 papers

NM_000180.4

p.Y827S

c.2480A>C

1 paper

NM_000180.4

p.Y827F

c.2480A>T

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