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.K2583insFs

c.7749dupA

Surrounding Variants

2 papers

NM_000038.6

p.E2582K

c.7744G>A

1 paper

NM_000038.6

p.E2582*

c.7744G>T

2 papers

NM_000038.6

p.K2583delFs

c.7748delA

2 papers

NM_000038.6

p.E2582_K2583delFs

c.7745_7749del5

1 paper

NM_000038.6

p.E2582G

c.7745A>G

1 paper

NM_000038.6

p.K2583fs

c.7747_7748fs

2 papers

NM_000038.6

p.S2581G

c.7741A>G

1 paper

NM_000038.6

p.K2583E

c.7747A>G

2 papers

NM_000038.6

p.K2583R

c.7748A>G

1 paper

NM_000038.6

p.S2580F

c.7739C>T

1 paper

NM_000038.6

p.A2584fs

c.7750_7751fs

2 papers

NM_000038.6

p.A2584fs

c.7750_7751fs