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.W150R

c.448T>C

Surrounding Variants

2 papers

NM_000180.4

p.W150R

c.448T>A

5 papers

NM_000180.4

p.W150*

c.449G>A

1 paper

NM_000180.4

p.P149_W150delFs

c.447_448delCT

4 papers

NM_000180.4

p.W150*

c.450G>A

1 paper

NM_000180.4

p.G151C

c.451G>T

1 paper

NM_000180.4

p.V148V

c.444G>T

1 paper

NM_000180.4

p.C152Y

c.455G>A

3 papers

NM_000180.4

p.P153L

c.458C>T

1 paper

NM_000180.4

p.W154fs

c.460_461fs

1 paper

NM_000180.4

p.W154_T155del1

c.461_463delGGA

1 paper

NM_000180.4

p.I145V

c.433A>G

1 paper

NM_000180.4

p.I145F

c.433A>T