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.R33S

c.99G>T

Surrounding Variants

1 paper

NM_000855.3

p.R33S

c.99G>C

1 paper

NM_000855.3

p.W36del1

c.106_108delCCA

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

1 paper

NM_000855.3

p.C35_R40del0

c.105_119del15

1 paper

NM_000855.3

p.S39_S41delins

c.116_122delinsC

1 paper

NM_000855.3

p.P23P

c.69G>A

1 paper

NM_000855.3

p.P23L

c.68C>T

1 paper

NM_000855.3

p.G44A

c.131G>C

1 paper

NM_000855.3

p.P43_G44del1

c.129_131delCCG

1 paper

NM_000855.3

p.S41_P45del0

c.123_134del12