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.L508S

c.1523T>C

Surrounding Variants

1 paper

NM_000038.6

p.T509del1

c.1525_1527delACT

1 paper

NM_000038.6

p.T509_D512del4

c.1525_1535del12

2 papers

NM_000038.6

p.L508fs

c.1522_1523fs

1 paper

NM_000038.6

p.L508fs

c.1522_1523fs

8 papers

NM_000038.6

p.N507K

c.1521C>A

8 papers

NM_000038.6

p.N507K

c.1521C>G

2 papers

NM_000038.6

p.L508delFs

c.1522_1523delTT

1 paper

NM_000038.6

p.N507I

c.1520A>T

2 papers

NM_000038.6

p.F510delFs

c.1530delT

1 paper

NM_000038.6

p.N507D

c.1519A>G

2 papers

NM_000038.6

p.F510fs

c.1528_1529fs

2 papers

NM_000038.6

p.F510_G511insA

c.1528_1532ins3