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.F54_T55insFs

c.162_163dupCA

Surrounding Variants

1 paper

NM_000180.4

p.F54L

c.162C>A

1 paper

NM_000180.4

p.F54L

c.162C>G

1 paper

NM_000180.4

p.F54I

c.160T>A

1 paper

NM_000180.4

p.F54L

c.160T>C

1 paper

NM_000180.4

p.F54fs

c.160_161fs

1 paper

NM_000180.4

p.T55fs

c.163_164fs

1 paper

NM_000180.4

p.V53_F54ins1

c.159_160insTAA

10 papers

NM_000180.4

p.T55M

c.164C>T

1 paper

NM_000180.4

p.V53delFs

c.159delG

2 papers

NM_000180.4

p.V56delFs

c.167_168delTG

1 paper

NM_000180.4

p.V56fs

c.166_167fs

2 papers

NM_000180.4

p.A52T

c.154G>A