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.N1761D

c.5281A>G

Surrounding Variants

2 papers

NM_000038.6

p.N1761T

c.5282A>C

1 paper

NM_000038.6

p.N1761S

c.5282A>G

1 paper

NM_000038.6

p.N1761delFs

c.5282delA

1 paper

NM_000038.6

p.N1761_K1771del11

c.5281_5312del33

1 paper

NM_000038.6

p.P1760H

c.5279C>A

1 paper

NM_000038.6

p.N1761K

c.5283C>A

1 paper

NM_000038.6

p.N1761K

c.5283C>G

1 paper

NM_000038.6

p.P1760L

c.5279C>T

2 papers

NM_000038.6

p.K1762E

c.5284A>G

1 paper

NM_000038.6

p.P1760S

c.5278C>T

1 paper

NM_000038.6

p.N1763Fs

c.5287delinsCAFs

3 papers

NM_000038.6

p.A1759V

c.5276C>T