Varaico: Literature-Extracted Genetic Variants

APC

6,282 papers

RefSeq Summary

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional acti...

Pfam Domains

APC_N_CCaa 4–55UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 131–207UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 393–466UCSCAdenomatous polyposis coli (APC) repeat

Armaa 512–553UCSCArmadillo/beta-catenin-like repeat

Armaa 649–689UCSCArmadillo/beta-catenin-like repeat

Armaa 691–731UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway

HGNC Alias Symbols

DP2; DP3; DP2.5; PPP1R46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000038.6

p.S1063G

c.3187A>G

Surrounding Variants

2 papers

NM_000038.6

p.S1063fs

c.3187_3188fs

4 papers

NM_000038.6

p.S1063_E1064delFs

c.3189_3192del4

1 paper

NM_000038.6

p.S1063N

c.3188G>A

1 paper

NM_000038.6

p.S1063R

c.3189T>A

10 papers

NM_000038.6

p.Q1062fs

c.3184_3185fs

61 papers

NM_000038.6

p.Q1062*

c.3184C>T

7 papers

NM_000038.6

p.Q1062_S1063delFs

c.3186_3187delAA

1 paper

NM_000038.6

p.Q1062fs

c.3184_3185fs

2 papers

NM_000038.6

p.E1064K

c.3190G>A

2 papers

NM_000038.6

p.E1064*

c.3190G>T

2 papers

NM_000038.6

p.E1064fs

c.3190_3191fs

1 paper

NM_000038.6

p.K1061N

c.3183A>C