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.A81_A82insA

c.241_245ins3

Surrounding Variants

1 paper

NM_000180.4

p.A82_L84insFs

c.244_250dup7

1 paper

NM_000180.4

p.A82_R83insC

c.244_248ins3

2 papers

NM_000180.4

p.R83C

c.247C>T

1 paper

NM_000180.4

p.L84V

c.250C>G

1 paper

NM_000180.4

p.L84L

c.250C>T

1 paper

NM_000180.4

p.A76_A77Fs

c.227_229delinsATFs

1 paper

NM_000180.4

p.R86S

c.256C>A

1 paper

NM_000180.4

p.R86insFs

c.257dupG

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

2 papers

NM_000180.4

p.A76_A80delFs

c.226_239del14