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.D194H

c.580G>C

Surrounding Variants

1 paper

NM_001130682.3

p.L191I

c.571C>A

2 papers

NM_001130682.3

p.V202I

c.604G>A

1 paper

NM_001130682.3

p.Y203F

c.608A>T

1 paper

NM_001130682.3

p.G183A

c.548G>C

1 paper

NM_001130682.3

p.L213M

c.637C>A

1 paper

NM_001130682.3

p.S173G

c.517A>G

1 paper

NM_001130682.3

p.G217S

c.649G>A

1 paper

NM_001130682.3

p.A222V

c.665C>T

1 paper

NM_001130682.3

p.S165G

c.493A>G

1 paper

NM_001130682.3

p.L163_N164insFs

c.489_490insT

1 paper

NM_001130682.3

p.L163fs

c.487_488fs

4 papers

NM_001130682.3

p.L163fs

c.487_488fs