Varaico: Literature-Extracted Genetic Variants

GUCY2C

140 papers

RefSeq Summary

This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cyst...

Pfam Domains

PK_Tyr_Ser-Thraa 499–745UCSCProtein tyrosine and serine/threonine kinase

Guanylate_cycaa 815–1002UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

guanylate cyclase 2C

HGNC Previous Symbol

GUC2C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_004963.4

p.C928R

c.2782T>C

Surrounding Variants

1 paper

NM_004963.4

p.G931E

c.2792G>A

1 paper

NM_004963.4

p.G944R

c.2830G>C

1 paper

NM_004963.4

p.G944R

c.2830G>A

1 paper

NM_004963.4

p.T946K

c.2837C>A

1 paper

NM_004963.4

p.S955S

c.2865C>T

4 papers

NM_004963.4

p.S955delins

c.2864_2865delinsTA

1 paper

NM_004963.4

p.A897A

c.2691C>T

1 paper

NM_004963.4

p.A897V

c.2690C>T

1 paper

NM_004963.4

p.R888Q

c.2663G>A

1 paper

NM_004963.4

p.R888delFs

c.2662delG

1 paper

NM_004963.4

p.R888fs

c.2662_2663fs

1 paper

NM_004963.4

p.N885K

c.2655T>G