Varaico: Literature-Extracted Genetic Variants

APC2

218 papers

RefSeq Summary

This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the as...

Pfam Domains

APC_N_CCaa 6–57UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 124–205UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 357–431UCSCAdenomatous polyposis coli (APC) repeat

Armaa 614–654UCSCArmadillo/beta-catenin-like repeat

Arm_APC_u3aa 697–959UCSCArmadillo-associated region on APC

APC_raa 1054–1076UCSCAPC repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway 2

HGNC Alias Symbol

APCL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005883.3

p.N674K

c.2022T>G

Surrounding Variants

1 paper

NM_005883.3

p.N674K

c.2022T>A

2 papers

NM_005883.3

p.V669M

c.2005G>A

1 paper

NM_005883.3

p.A668T

c.2002G>A

1 paper

NM_005883.3

p.L663M

c.1987C>A

1 paper

NM_005883.3

p.H697Y

c.2089C>T

1 paper

NM_005883.3

p.R698W

c.2092C>T

1 paper

NM_005883.3

p.G647D

c.1940G>A

1 paper

NM_005883.3

p.A708T

c.2122G>A

1 paper

NM_005883.3

p.T640I

c.1919C>T

1 paper

NM_005883.3

p.L630L

c.1890G>A

3 papers

NM_005883.3

p.Q628*

c.1882C>T

1 paper

NM_005883.3

p.E729G

c.2186A>G