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.R120L

c.359G>T

Surrounding Variants

1 paper

NM_000180.4

p.R120P

c.359G>C

1 paper

NM_000180.4

p.R120C

c.358C>T

1 paper

NM_000180.4

p.S122delFs

c.364delT

1 paper

NM_000180.4

p.A119_R120delFs

c.356_359del4

1 paper

NM_000180.4

p.S122P

c.364T>C

1 paper

NM_000180.4

p.S122*

c.365C>A

1 paper

NM_000180.4

p.A117V

c.350C>T

2 papers

NM_000180.4

p.L124_N129del6

c.370_386del18

1 paper

NM_000180.4

p.A117T

c.349G>A

1 paper

NM_000180.4

p.L124F

c.370C>T

1 paper

NM_000180.4

p.G126R

c.376G>C

1 paper

NM_000180.4

p.V114A

c.341T>C