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

3 papers

NM_000855.3

p.R728Q

c.2183G>A

Surrounding Variants

1 paper

NM_000855.3

p.R728R

c.2184G>T

1 paper

NM_000855.3

p.G723G

c.2169C>T

1 paper

NM_000855.3

p.S719F

c.2156C>T

1 paper

NM_000855.3

p.K716I

c.2147A>T

1 paper

NM_000855.3

p.S712L

c.2135C>T

1 paper

NM_000855.3

p.E689K

c.2065G>A

1 paper

NM_000855.3

p.N685T

c.2054A>C

1 paper

NM_000855.3

p.L682R

c.2045T>G

1 paper

NM_000855.3

p.E681V

c.2042A>T

1 paper

NM_000855.3

p.E681K

c.2041G>A

1 paper

NM_000855.3

p.S678P

c.2032T>C