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.L50R

c.149T>G

Surrounding Variants

1 paper

NM_000180.4

p.L50I

c.148C>A

1 paper

NM_000180.4

p.L50F

c.148C>T

1 paper

NM_000180.4

p.L50_G57insFs

c.148_170dup23

2 papers

NM_000180.4

p.A49V

c.146C>T

2 papers

NM_000180.4

p.A49fs

c.145_146fs

2 papers

NM_000180.4

p.A52T

c.154G>A

20 papers

NM_000180.4

p.A52S

c.154G>T

1 paper

NM_000180.4

p.P47P

c.141C>T

1 paper

NM_000180.4

p.V53delFs

c.159delG

2 papers

NM_000180.4

p.P47Fs

c.139_140delinsAFs

1 paper

NM_000180.4

p.V53_F54ins1

c.159_160insTAA

4 papers

NM_000180.4

p.P47delFs

c.139delC