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.I495delFs

c.1485delT

Surrounding Variants

1 paper

NM_000038.6

p.I495fs

c.1483_1484fs

2 papers

NM_000038.6

p.I495V

c.1483A>G

2 papers

NM_000038.6

p.I495_T496insFs

c.1483_1486dup4

5 papers

NM_000038.6

p.S494N

c.1481G>A

1 paper

NM_000038.6

p.S494I

c.1481G>T

1 paper

NM_000038.6

p.S494insFs

c.1480_1481insC

2 papers

NM_000038.6

p.S494G

c.1480A>G

3 papers

NM_000038.6

p.T496fs

c.1486_1487fs

2 papers

NM_000038.6

p.T496R

c.1487C>G

1 paper

NM_000038.6

p.Y493*

c.1479C>G

1 paper

NM_000038.6

p.T496I

c.1487C>T

2 papers

NM_000038.6

p.L497insFs

c.1489_1490insC