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.T188insFs

c.564dupC

Surrounding Variants

1 paper

NM_000180.4

p.V187V

c.561C>T

1 paper

NM_000180.4

p.Q191insFs

c.571dupC

1 paper

NM_000180.4

p.A189fs

c.565_566fs

1 paper

NM_000180.4

p.A189fs

c.565_566fs

1 paper

NM_000180.4

p.A189_Q191del0

c.566_571del6

1 paper

NM_000180.4

p.A189_Q191Fs

c.566_571delinsTGGGTGGAGGFs

1 paper

NM_000180.4

p.L186P

c.557T>C

1 paper

NM_000180.4

p.A185P

c.553G>C

2 papers

NM_000180.4

p.V184V

c.552G>A

1 paper

NM_000180.4

p.L193L

c.577C>T

1 paper

NM_000180.4

p.W181*

c.543G>A

1 paper

NM_000180.4

p.W181*

c.542G>A