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.Q1294Q

c.3882G>A

Surrounding Variants

1 paper

NM_000038.6

p.E1295_A1296delFs

c.3883_3887del5

2 papers

NM_000038.6

p.Q1294R

c.3881A>G

3 papers

NM_000038.6

p.E1295K

c.3883G>A

4 papers

NM_000038.6

p.E1295fs

c.3883_3884fs

20 papers

NM_000038.6

p.E1295*

c.3883G>T

2 papers

NM_000038.6

p.E1295delFs

c.3885delA

2 papers

NM_000038.6

p.E1295fs

c.3883_3884fs

1 paper

NM_000038.6

p.E1295Fs

c.3884delinsCTTFs

6 papers

NM_000038.6

p.Q1294fs

c.3880_3881fs

56 papers

NM_000038.6

p.Q1294*

c.3880C>T

5 papers

NM_000038.6

p.Q1294fs

c.3880_3881fs

3 papers

NM_000038.6

p.Q1294delFs

c.3880delC