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.A132T

c.394G>A

Surrounding Variants

1 paper

NM_000180.4

p.C133R

c.397T>C

3 papers

NM_000180.4

p.P130L

c.389C>T

1 paper

NM_000180.4

p.P130fs

c.388_389fs

1 paper

NM_000180.4

p.R134G

c.400C>G

1 paper

NM_000180.4

p.R134W

c.400C>T

11 papers

NM_000180.4

p.P130fs

c.388_389fs

4 papers

NM_000180.4

p.N129K

c.387C>A

3 papers

NM_000180.4

p.N129K

c.387C>G

23 papers

NM_000180.4

p.P130delFs

c.389delC

3 papers

NM_000180.4

p.N129_R134del6

c.385_401del18

1 paper

NM_000180.4

p.A136P

c.406G>C

1 paper

NM_000180.4

p.P127P

c.381G>A