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

2 papers

NM_000038.6

p.E1317G

c.3950A>G

Surrounding Variants

1 paper

NM_000038.6

p.E1317insFs

c.3950_3951insG

1 paper

NM_000038.6

p.E1317_P1319delFs

c.3951_3955del5

2 papers

NM_000038.6

p.E1317K

c.3949G>A

216 papers

NM_000038.6

p.E1317Q

c.3949G>C

3 papers

NM_000038.6

p.E1317fs

c.3949_3950fs

15 papers

NM_000038.6

p.E1317*

c.3949G>T

1 paper

NM_000038.6

p.E1317delFs

c.3951delA

2 papers

NM_000038.6

p.E1317fs

c.3949_3950fs

1 paper

NM_000038.6

p.E1317_P1319delFs

c.3950_3956del7

3 papers

NM_000038.6

p.D1318fs

c.3952_3953fs

1 paper

NM_000038.6

p.D1318Y

c.3952G>T

1 paper

NM_000038.6

p.D1318delFs

c.3953delA