Varaico: Literature-Extracted Genetic Variants

GUCY1A2

113 papers

RefSeq Summary

Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex an...

Pfam Domains

HNOBaa 128–270UCSCHaem-NO-binding

HNOBAaa 316–506UCSCHeme NO binding associated

Guanylate_cycaa 512–699UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

guanylate cyclase 1 soluble subunit alpha 2

HGNC Previous Symbol

GUC1A2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000855.3

p.E601D

c.1803A>C

Surrounding Variants

1 paper

NM_000855.3

p.E601D

c.1803A>T

1 paper

NM_000855.3

p.E602*

c.1804G>T

1 paper

NM_000855.3

p.E598Q

c.1792G>C

1 paper

NM_000855.3

p.E598K

c.1792G>A

1 paper

NM_000855.3

p.P610L

c.1829C>T

1 paper

NM_000855.3

p.A590D

c.1769C>A

1 paper

NM_000855.3

p.P588S

c.1762C>T

1 paper

NM_000855.3

p.P588A

c.1762C>G

2 papers

NM_000855.3

p.R580I

c.1739G>T