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.R78_A81del0

c.232_243del12

Surrounding Variants

1 paper

NM_000180.4

p.L75fs

c.223_224fs

1 paper

NM_000180.4

p.P73_D74insFs

c.219_220insAT

2 papers

NM_000180.4

p.A76_A80delFs

c.226_239del14

5 papers

NM_000180.4

p.A80_L84del0

c.238_252del15

1 paper

NM_000180.4

p.P73del1

c.217_218delCCG

1 paper

NM_000180.4

p.A76T

c.226G>A

1 paper

NM_000180.4

p.A76fs

c.226_227fs

2 papers

NM_000180.4

p.A76fs

c.226_227fs

1 paper

NM_000180.4

p.A76_A77Fs

c.227_229delinsATFs

1 paper

NM_000180.4

p.R72_P73del1

c.216_218delCCC

1 paper

NM_000180.4

p.R72fs

c.214_215fs

1 paper

NM_000180.4

p.R72_A76delFs

c.214_227del14