Varaico: Literature-Extracted Genetic Variants

GUCY1A2

113 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

HNOBaa 128–270UCSCHaem-NO-binding

HNOBAaa 316–506UCSCHeme NO binding associated

Guanylate_cycaa 512–699UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

guanylate cyclase 1 soluble subunit alpha 2

HGNC Previous Symbol

GUC1A2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000855.3

p.G153E

c.458G>A

Surrounding Variants

1 paper

NM_000855.3

p.I154V

c.460A>G

1 paper

NM_000855.3

p.L155F

c.463C>T

1 paper

NM_000855.3

p.L155I

c.463C>A

1 paper

NM_000855.3

p.D150Y

c.448G>T

1 paper

NM_000855.3

p.N144N

c.432C>T

1 paper

NM_000855.3

p.L162fs

c.484_485fs

1 paper

NM_000855.3

p.L162_G163delFs

c.486_487delCG

1 paper

NM_000855.3

p.D141N

c.421G>A

1 paper

NM_000855.3

p.S134C

c.401C>G

2 papers

NM_000855.3

p.K128N

c.384G>T

2 papers

NM_000855.3

p.K128N

c.384G>C

1 paper

NM_000855.3

p.E127V

c.380A>T