Varaico: Literature-Extracted Genetic Variants

GUCY1B1

43 papers

RefSeq Summary

This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein ...

Pfam Domains

HNOBaa 1–98UCSCHaem-NO-binding

HNOBaa 2–117UCSCHaem-NO-binding

HNOBAaa 138–324UCSCHeme NO binding associated

Guanylate_cycaa 387–581UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

guanylate cyclase 1 soluble subunit beta 1

HGNC Previous Symbols

GUC1B3; GUCY1B3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 32 variants

2 papers

NM_000857.5

p.G356E

c.1067G>A

1 paper

NM_000857.5

p.M1K

c.2T>A

1 paper

NM_001291952.3

p.I6Splc

c.17+5T>G

1 paper

NM_000857.5

p.Q30L

c.89A>T

1 paper

NM_000857.5

p.N60K

c.180T>A

1 paper

NM_000857.5

p.N60K

c.180T>G

1 paper

NM_000857.5

p.F74C

c.221T>G

1 paper

NM_000857.5

p.R88H

c.263G>A

1 paper

NM_000857.5

p.N100K

c.300C>A

1 paper

NM_000857.5

p.N100K

c.300C>G

1 paper

NM_000857.5

p.P113L

c.338C>T

1 paper

NM_000857.5

p.E182D

c.546A>C