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

2 papers

NM_004963.4

p.R497*

c.1489C>T

Surrounding Variants

5 papers

NM_004963.4

p.K507E

c.1519A>G

2 papers

NM_004963.4

p.K511fs

c.1531_1532fs

2 papers

NM_004963.4

p.K511delFs

c.1532delT

1 paper

NM_004963.4

p.K511_R512Splc

c.1533+2T>C

1 paper

NM_004963.4

p.I514T

c.1541T>C

1 paper

NM_004963.4

p.G523S

c.1567G>A

1 paper

NM_004963.4

p.F525L

c.1573T>C

1 paper

NM_004963.4

p.F525L

c.1575C>G

1 paper

NM_004963.4

p.F525L

c.1575C>A

1 paper

NM_004963.4

p.L533L

c.1599G>A

1 paper

NM_004963.4

p.K535_L536Splc

c.1606-76T>G

1 paper

NM_004963.4

p.G549R

c.1645G>C