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.E1265K

c.3793G>A

Surrounding Variants

1 paper

NM_000038.6

p.E1265Q

c.3793G>C

3 papers

NM_000038.6

p.E1265*

c.3793G>T

3 papers

NM_000038.6

p.D1266_T1267insFs

c.3796_3799dup4

2 papers

NM_000038.6

p.E1265_D1266insFs

c.3795_3796insT

1 paper

NM_000038.6

p.E1265E

c.3795A>G

1 paper

NM_000038.6

p.V1264delFs

c.3792delA

4 papers

NM_000038.6

p.D1266N

c.3796G>A

3 papers

NM_000038.6

p.V1264I

c.3790G>A

1 paper

NM_000038.6

p.V1264fs

c.3790_3791fs

1 paper

NM_000038.6

p.D1266insFs

c.3796_3797insT

1 paper

NM_000038.6

p.V1264delFs

c.3791delT

1 paper

NM_000038.6

p.D1266G

c.3797A>G