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.R77W

c.229A>T

Surrounding Variants

1 paper

NM_000855.3

p.A68P

c.202G>C

1 paper

NM_000855.3

p.N86I

c.257A>T

1 paper

NM_000855.3

p.A67S

c.199G>T

2 papers

NM_000855.3

p.T62_P63ins0

c.184_189dup6

1 paper

NM_000855.3

p.E92K

c.274G>A

1 paper

NM_000855.3

p.T62P

c.184A>C

1 paper

NM_000855.3

p.A58A

c.174C>T

1 paper

NM_000855.3

p.R96H

c.287G>A

1 paper

NM_000855.3

p.A99V

c.296C>T

1 paper

NM_000855.3

p.S41_A53del0

c.122_157del36

1 paper

NM_000855.3

p.L46_A51del0

c.138_152del15

1 paper

NM_000855.3

p.P43_S49del0

c.128_145del18