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.V165_P167del0

c.493_501del9

Surrounding Variants

1 paper

NM_000180.4

p.A164T

c.490G>A

1 paper

NM_000180.4

p.P163P

c.489T>G

1 paper

NM_000180.4

p.V165M

c.493G>A

1 paper

NM_000180.4

p.A162A

c.486C>T

2 papers

NM_000180.4

p.T166_P167del2

c.496_500del6

1 paper

NM_000180.4

p.T166_A169del0

c.498_506del9

1 paper

NM_000180.4

p.A162fs

c.484_485fs

1 paper

NM_000180.4

p.T161M

c.482C>T

1 paper

NM_000180.4

p.T160T

c.480C>G

7 papers

NM_000180.4

p.G159V

c.476G>T

1 paper

NM_000180.4

p.G159S

c.475G>A

1 paper

NM_000180.4

p.G159_T160insTAA

c.475_479ins9