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

20 papers

NM_000180.4

p.F565S

c.1694T>C

Surrounding Variants

1 paper

NM_000180.4

p.P566_I571del6

c.1696_1712del18

1 paper

NM_000180.4

p.Q569*

c.1705C>T

1 paper

NM_000180.4

p.I571R

c.1712T>G

3 papers

NM_000180.4

p.D558N

c.1672G>A

2 papers

NM_000180.4

p.I573V

c.1717A>G

4 papers

NM_000180.4

p.R574C

c.1720C>T

2 papers

NM_000180.4

p.E556_G557Splc

c.1669-1G>A

1 paper

NM_000180.4

p.R574H

c.1721G>A

17 papers

NM_000180.4

p.P575L

c.1724C>T

4 papers

NM_000180.4

p.K583_L584Splc

c.1749+1G>T

1 paper

NM_000180.4

p.K583_L584Splc

c.1749+5G>T

2 papers

NM_000180.4

p.E556_G557Splc

c.1668+2T>C