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.R3*

c.7C>T

Surrounding Variants

1 paper

NM_000855.3

p.R3G

c.7C>G

1 paper

NM_000855.3

p.R4G

c.10A>G

1 paper

NM_000855.3

p.R4S

c.12G>C

1 paper

NM_000855.3

p.E9V

c.26A>T

1 paper

NM_000855.3

p.S12R

c.34A>C

1 paper

NM_000855.3

p.S12R

c.36C>G

1 paper

NM_000855.3

p.S12R

c.36C>A

1 paper

NM_000855.3

p.G15D

c.44G>A

1 paper

NM_000855.3

p.S16F

c.47C>T

1 paper

NM_000855.3

p.P23L

c.68C>T

1 paper

NM_000855.3

p.P23P

c.69G>A

1 paper

NM_000855.3

p.R33S

c.99G>T