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_001127511.3

p.L1493I

c.4477C>A

Surrounding Variants

2 papers

NM_000038.6

p.L1511fs

c.4531_4532fs

2 papers

NM_000038.6

p.L1511F

c.4531C>T

1 paper

NM_000038.6

p.S1510R

c.4530C>A

2 papers

NM_000038.6

p.D1512del1

c.4534_4535delGAT

1 paper

NM_000038.6

p.D1512_V1520delFs

c.4534_4559del26

1 paper

NM_000038.6

p.S1510fs

c.4528_4529fs

2 papers

NM_000038.6

p.S1510delFs

c.4529delG

1 paper

NM_000038.6

p.S1510fs

c.4528_4529fs

5 papers

NM_000038.6

p.D1512N

c.4534G>A

1 paper

NM_000038.6

p.D1512fs

c.4534_4535fs

1 paper

NM_000038.6

p.D1512insFs

c.4534_4535insT

1 paper

NM_000038.6

p.D1512Y

c.4534G>T