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

1 paper

NM_000038.6

p.K1061delFs

c.3182_3183delAA

Surrounding Variants

1 paper

NM_000038.6

p.K1061_Q1062insFs

c.3183_3184insA

3 papers

NM_000038.6

p.K1061delFs

c.3183delA

1 paper

NM_000038.6

p.I1060_K1061delFs

c.3180_3183del4

102 papers

NM_000038.6

p.K1061_S1063delFs

c.3183_3187del5

3 papers

NM_000038.6

p.I1060fs

c.3178_3179fs

1 paper

NM_000038.6

p.I1060Fs

c.3180delinsTAFs

2 papers

NM_000038.6

p.I1060I

c.3180A>T

8 papers

NM_000038.6

p.Q1062_S1063delFs

c.3184_3187del4

7 papers

NM_000038.6

p.K1061fs

c.3181_3182fs

3 papers

NM_000038.6

p.K1061*

c.3181A>T

1 paper

NM_000038.6

p.K1061fs

c.3181_3182fs

1 paper

NM_000038.6

p.K1061R

c.3182A>G