Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2C

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
1–12 of 171 variants
13 papers
NM_004963.4
p.S840I
c.2519G>T
9 papers
NM_004963.4
p.D387G
c.1160A>G
5 papers
NM_004963.4
p.K507E
c.1519A>G
5 papers
NM_004963.4
p.L775P
c.2324T>C
5 papers
NM_004963.4
p.R792S
c.2376G>T
5 papers
NM_004963.4
p.R792S
c.2376G>C
5 papers
NM_004963.4
p.N850D
c.2548A>G
5 papers
NM_004963.4
p.I859V
c.2575A>G
4 papers
NM_004963.4
p.N757fs
c.2269_2270fs
4 papers
NM_004963.4
p.N757insFs
c.2270dupA
4 papers
NM_004963.4
p.Q784K
c.2350C>A
4 papers
NM_004963.4
p.S955delins
c.2864_2865delinsTA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."