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

5 papers

NM_004963.4

p.I859V

c.2575A>G

Surrounding Variants

1 paper

NM_004963.4

p.H862Y

c.2584C>T

5 papers

NM_004963.4

p.N850D

c.2548A>G

2 papers

NM_004963.4

p.V846M

c.2536G>A

1 paper

NM_004963.4

p.E844Q

c.2530G>C

1 paper

NM_004963.4

p.M843fs

c.2527_2528fs

1 paper

NM_004963.4

p.P842delFs

c.2526delG

13 papers

NM_004963.4

p.S840I

c.2519G>T

1 paper

NM_004963.4

p.F827C

c.2480T>G

1 paper

NM_004963.4

p.P817P

c.2451G>A

1 paper

NM_004963.4

p.N885K

c.2655T>G

1 paper

NM_004963.4

p.N885K

c.2655T>A

1 paper

NM_004963.4

p.R888fs

c.2662_2663fs