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

49 papers

NM_000180.4

p.R768W

c.2302C>T

Surrounding Variants

1 paper

NM_000180.4

p.R768G

c.2302C>G

6 papers

NM_000180.4

p.R768Q

c.2303G>A

2 papers

NM_000180.4

p.P769S

c.2305C>T

1 paper

NM_000180.4

p.V771E

c.2312T>A

3 papers

NM_000180.4

p.P764S

c.2290C>T

3 papers

NM_000180.4

p.P764fs

c.2290_2291fs

1 paper

NM_000180.4

p.M773L

c.2317A>C

1 paper

NM_000180.4

p.M773L

c.2317A>T

1 paper

NM_000180.4

p.M773T

c.2318T>C

3 papers

NM_000180.4

p.P764delFs

c.2291delC

1 paper

NM_000180.4

p.S762fs

c.2284_2285fs

6 papers

NM_000180.4

p.S762delFs

c.2285delG