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.F281L

c.841T>C

Surrounding Variants

3 papers

NM_004963.4

p.F281L

c.843T>G

3 papers

NM_004963.4

p.F281L

c.843T>A

1 paper

NM_004963.4

p.Q279*

c.835C>T

1 paper

NM_004963.4

p.L295P

c.884T>C

1 paper

NM_004963.4

p.T298M

c.893C>T

1 paper

NM_004963.4

p.P301S

c.901C>T

1 paper

NM_004963.4

p.S308N

c.923G>A

1 paper

NM_004963.4

p.P316T

c.946C>A

1 paper

NM_004963.4

p.I338T

c.1013T>C

1 paper

NM_004963.4

p.L340V

c.1018C>G

1 paper

NM_004963.4

p.P349delFs

c.1047delG

1 paper

NM_004963.4

p.F355L

c.1063T>C