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

1–12 of 113 variants

5 papers

NM_001130682.3

p.A680T

c.2038G>A

4 papers

NM_001130682.3

p.L163fs

c.487_488fs

4 papers

NM_001130682.3

p.Y227F

c.680A>T

4 papers

NM_001130682.3

p.R420*

c.1258C>T

3 papers

NM_001130682.3

p.R362_V363Splc

c.1086+1G>A

3 papers

NM_001130682.3

p.L390delFs

c.1170delA

3 papers

NM_001130682.3

p.C517Y

c.1550G>A

2 papers

NM_001130682.3

p.L163insFs

c.488dupT

2 papers

NM_001130682.3

p.V202I

c.604G>A

2 papers

NM_001130682.3

p.T229M

c.686C>T

2 papers

NM_001130682.3

p.R349*

c.1045C>T

2 papers

NM_001130682.3

p.M364K

c.1091T>A