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.G236E

c.707G>A

Surrounding Variants

1 paper

NM_000180.4

p.P237S

c.709C>T

2 papers

NM_000180.4

p.R234W

c.700C>T

1 paper

NM_000180.4

p.V233L

c.697G>C

1 paper

NM_000180.4

p.V233F

c.697G>T

1 paper

NM_000180.4

p.V233del1

c.697_699delGTT

1 paper

NM_000180.4

p.K232_R234ins1

c.696_701dup6

1 paper

NM_000180.4

p.K232fs

c.694_695fs

1 paper

NM_000180.4

p.K232fs

c.694_695fs

1 paper

NM_000180.4

p.A241P

c.721G>C

1 paper

NM_000180.4

p.R231insFs

c.693dupG

2 papers

NM_000180.4

p.A241Splc

c.721+2T>C

2 papers

NM_000180.4

p.A241Splc

c.721+5G>T