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.S234L

c.701C>T

Surrounding Variants

1 paper

NM_001130682.3

p.S234S

c.702G>A

1 paper

NM_001130682.3

p.P238delFs

c.712delC

1 paper

NM_001130682.3

p.P238fs

c.712_713fs

1 paper

NM_001130682.3

p.T229T

c.687G>A

2 papers

NM_001130682.3

p.T229M

c.686C>T

4 papers

NM_001130682.3

p.Y227F

c.680A>T

1 paper

NM_001130682.3

p.E246*

c.736G>T

1 paper

NM_001130682.3

p.A222V

c.665C>T

1 paper

NM_001130682.3

p.G217S

c.649G>A

1 paper

NM_001130682.3

p.L213M

c.637C>A

1 paper

NM_001130682.3

p.V257I

c.769G>A

1 paper

NM_001130682.3

p.Y203F

c.608A>T