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

1–12 of 156 variants

3 papers

NM_000855.3

p.S39R

c.115A>C

3 papers

NM_000855.3

p.S39R

c.117C>G

3 papers

NM_000855.3

p.S39R

c.117C>A

3 papers

NM_000855.3

p.R728Q

c.2183G>A

2 papers

NM_000855.3

p.T62_P63ins0

c.184_189dup6

2 papers

NM_000855.3

p.K128N

c.384G>T

2 papers

NM_000855.3

p.K128N

c.384G>C

2 papers

NM_000855.3

p.R580I

c.1739G>T

1 paper

NM_000855.3

p.R3*

c.7C>T

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