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.S1436N

c.4307G>A

Surrounding Variants

2 papers

NM_000038.6

p.S1436insFs

c.4308dupT

5 papers

NM_000038.6

p.S1436delFs

c.4308delT

4 papers

NM_000038.6

p.K1437_P1439del3

c.4309_4316del9

12 papers

NM_000038.6

p.S1436fs

c.4306_4307fs

3 papers

NM_000038.6

p.S1436G

c.4306A>G

2 papers

NM_000038.6

p.S1436delFs

c.4307delG

2 papers

NM_000038.6

p.S1436fs

c.4306_4307fs

1 paper

NM_000038.6

p.S1436_K1437insFs

c.4308_4309insAA

18 papers

NM_000038.6

p.T1438delFs

c.4312delA

1 paper

NM_000038.6

p.S1436insFs

c.4306_4307dupAG

3 papers

NM_000038.6

p.K1437fs

c.4309_4310fs

6 papers

NM_000038.6

p.K1437*

c.4309A>T