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.H406Y

c.1216C>T

Surrounding Variants

1 paper

NM_001130682.3

p.D411V

c.1232A>T

1 paper

NM_001130682.3

p.R396Q

c.1187G>A

1 paper

NM_001130682.3

p.G395R

c.1183G>A

1 paper

NM_001130682.3

p.G395R

c.1183G>C

4 papers

NM_001130682.3

p.R420*

c.1258C>T

1 paper

NM_001130682.3

p.E391fs

c.1171_1172fs

1 paper

NM_001130682.3

p.E391fs

c.1171_1172fs

3 papers

NM_001130682.3

p.L390delFs

c.1170delA

1 paper

NM_001130682.3

p.Q422H

c.1266A>C

1 paper

NM_001130682.3

p.Q422H

c.1266A>T

1 paper

NM_001130682.3

p.R389I

c.1166G>T

1 paper

NM_001130682.3

p.R389G

c.1165A>G