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

9 papers

NM_004963.4

p.D387G

c.1160A>G

Surrounding Variants

1 paper

NM_004963.4

p.S385T

c.1153T>A

1 paper

NM_004963.4

p.T378_M379insA

c.1132_1136ins3

1 paper

NM_004963.4

p.V367L

c.1099G>T

1 paper

NM_004963.4

p.V367L

c.1099G>C

1 paper

NM_004963.4

p.P366R

c.1097C>G

1 paper

NM_004963.4

p.F355L

c.1065C>G

1 paper

NM_004963.4

p.F355L

c.1065C>A

1 paper

NM_004963.4

p.F355L

c.1063T>C

1 paper

NM_004963.4

p.P349delFs

c.1047delG

1 paper

NM_004963.4

p.L340V

c.1018C>G

1 paper

NM_004963.4

p.I338T

c.1013T>C

1 paper

NM_004963.4

p.V393del1

c.1177_1179delAAC