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.C420*

c.1260T>A

Surrounding Variants

1 paper

NM_000038.6

p.C420Y

c.1259G>A

21 papers

NM_000038.6

p.W421*

c.1262G>A

2 papers

NM_000038.6

p.W421delins

c.1262_1263delinsAA

5 papers

NM_000038.6

p.C420R

c.1258T>C

1 paper

NM_000038.6

p.C420_W423delFs

c.1259_1269del11

19 papers

NM_000038.6

p.W421*

c.1263G>A

1 paper

NM_000038.6

p.W421_E422insFs

c.1263_1264insC

4 papers

NM_000038.6

p.T419I

c.1256C>T

1 paper

NM_000038.6

p.E422K

c.1264G>A

1 paper

NM_000038.6

p.E422Q

c.1264G>C

5 papers

NM_000038.6

p.E422*

c.1264G>T

1 paper

NM_000038.6

p.T419fs

c.1255_1256fs