Varaico: Literature-Extracted Genetic Variants

GUCY1A1

99 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

HNOBAaa 275–466UCSCHeme NO binding associated

Guanylate_cycaa 472–658UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

guanylate cyclase 1 soluble subunit alpha 1

HGNC Previous Symbols

GUC1A3; GUCY1A3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130682.3

p.V480F

c.1438G>T

Surrounding Variants

1 paper

NM_001130682.3

p.S478G

c.1432A>G

1 paper

NM_001130682.3

p.S485P

c.1453T>C

1 paper

NM_001130682.3

p.F490I

c.1468T>A

1 paper

NM_001130682.3

p.L500L

c.1498C>T

1 paper

NM_001130682.3

p.Q501R

c.1502A>G

1 paper

NM_001130682.3

p.L453F

c.1357C>T

1 paper

NM_001130682.3

p.K449N

c.1347G>T

1 paper

NM_001130682.3

p.K449fs

c.1345_1346fs

1 paper

NM_001130682.3

p.E445K

c.1333G>A

3 papers

NM_001130682.3

p.C517Y

c.1550G>A

1 paper

NM_001130682.3

p.A442V

c.1325C>T

1 paper

NM_001130682.3

p.K433N

c.1299G>C