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.L172P

c.515T>C

Surrounding Variants

1 paper

NM_000180.4

p.L172R

c.515T>G

1 paper

NM_000180.4

p.L172delFs

c.515delT

1 paper

NM_000180.4

p.L172fs

c.514_515fs

1 paper

NM_000180.4

p.A171_L172insFs

c.513_514insTT

1 paper

NM_000180.4

p.Y173insFs

c.518dupA

1 paper

NM_000180.4

p.Y173_L175ins1

c.518_523dup6

1 paper

NM_000180.4

p.Y173*

c.519C>A

1 paper

NM_000180.4

p.Y173*

c.519C>G

1 paper

NM_000180.4

p.D170delFs

c.510delT

1 paper

NM_000180.4

p.L175insFs

c.524dupT

2 papers

NM_000180.4

p.A169A

c.507G>A

1 paper

NM_000180.4

p.L175R

c.524T>G