Varaico: Literature-Extracted Genetic Variants

GUCY1A1

99 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

HNOBAaa 275–466UCSCHeme NO binding associated

Guanylate_cycaa 472–658UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

guanylate cyclase 1 soluble subunit alpha 1

HGNC Previous Symbols

GUC1A3; GUCY1A3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130682.3

p.E608fs

c.1822_1823fs

Surrounding Variants

1 paper

NM_001130682.3

p.E608K

c.1822G>A

2 papers

NM_001130682.3

p.C610Y

c.1829G>A

2 papers

NM_001130682.3

p.R614*

c.1840C>T

1 paper

NM_001130682.3

p.R593H

c.1778G>A

1 paper

NM_001130682.3

p.V587I

c.1759G>A

1 paper

NM_001130682.3

p.V587F

c.1759G>T

1 paper

NM_001130682.3

p.V586I

c.1756G>A

1 paper

NM_001130682.3

p.H578L

c.1733A>T

1 paper

NM_001130682.3

p.G576E

c.1727G>A

2 papers

NM_001130682.3

p.I571V

c.1711A>G

1 paper

NM_001130682.3

p.S565Y

c.1694C>A

1 paper

NM_001130682.3

p.M556I

c.1668G>A