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.R208fs

c.622_623fs

Surrounding Variants

1 paper

NM_000180.4

p.R208W

c.622C>T

1 paper

NM_000180.4

p.R208fs

c.622_623fs

1 paper

NM_000180.4

p.A207_G209delins

c.620_627delinsTA

1 paper

NM_000180.4

p.A207P

c.619G>C

7 papers

NM_000180.4

p.A207delFs

c.620delC

1 paper

NM_000180.4

p.L210_S214delFs

c.630_640del11

1 paper

NM_000180.4

p.L205_R206delFs

c.615_616delCA

1 paper

NM_000180.4

p.P211fs

c.631_632fs

2 papers

NM_000180.4

p.L205_A207delFs

c.613_619del7

1 paper

NM_000180.4

p.V212F

c.634G>T

2 papers

NM_000180.4

p.S202S

c.606C>A

1 paper

NM_000180.4

p.S214_R227del14

c.640_680del42