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.F346S

c.1037T>C

Surrounding Variants

2 papers

NM_001130682.3

p.R349*

c.1045C>T

1 paper

NM_001130682.3

p.S336S

c.1008C>T

1 paper

NM_001130682.3

p.K358fs

c.1072_1073fs

1 paper

NM_001130682.3

p.K358insFs

c.1073_1074insG

1 paper

NM_001130682.3

p.T334M

c.1001C>T

1 paper

NM_001130682.3

p.K358K

c.1074A>G

1 paper

NM_001130682.3

p.S360C

c.1079C>G

3 papers

NM_001130682.3

p.R362_V363Splc

c.1086+1G>A

1 paper

NM_001130682.3

p.E321G

c.962A>G

1 paper

NM_001130682.3

p.R312K

c.935G>A

1 paper

NM_001130682.3

p.R306K

c.917G>A

1 paper

NM_001130682.3

p.F290S

c.869T>C