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

4 papers

NM_004963.4

p.N757fs

c.2269_2270fs

Surrounding Variants

4 papers

NM_004963.4

p.N757insFs

c.2270dupA

1 paper

NM_004963.4

p.L768P

c.2303T>C

1 paper

NM_004963.4

p.Q769P

c.2306A>C

2 papers

NM_004963.4

p.L770P

c.2309T>C

1 paper

NM_004963.4

p.S772P

c.2314T>C

1 paper

NM_004963.4

p.L775R

c.2324T>G

5 papers

NM_004963.4

p.L775P

c.2324T>C

1 paper

NM_004963.4

p.H777P

c.2330A>C

2 papers

NM_004963.4

p.T783I

c.2348C>T

4 papers

NM_004963.4

p.Q784K

c.2350C>A

1 paper

NM_004963.4

p.L785P

c.2354T>C

2 papers

NM_004963.4

p.Y786H

c.2356T>C