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

4 papers

NM_000180.4

p.P859Splc

c.2576+1G>A

Surrounding Variants

1 paper

NM_000180.4

p.P859insFs

c.2576_2577insTT

1 paper

NM_000180.4

p.P859L

c.2576C>T

12 papers

NM_000180.4

p.P858S

c.2572C>T

1 paper

NM_000180.4

p.L857M

c.2569C>A

1 paper

NM_000180.4

p.M856_L857del2

c.2566_2570del6

1 paper

NM_000180.4

p.Q855*

c.2563C>T

2 papers

NM_000180.4

p.L852P

c.2555T>C

1 paper

NM_000180.4

p.D850N

c.2548G>A

1 paper

NM_000180.4

p.T849R

c.2546C>G

5 papers

NM_000180.4

p.T849A

c.2545A>G

5 papers

NM_000180.4

p.K848Q

c.2542A>C

4 papers

NM_000180.4

p.Q847L

c.2540A>T