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.M2047I

c.6141G>A

Surrounding Variants

2 papers

NM_000038.6

p.M2047I

c.6141G>C

2 papers

NM_000038.6

p.M2047I

c.6141G>T

1 paper

NM_000038.6

p.P2048T

c.6142C>A

2 papers

NM_000038.6

p.P2048A

c.6142C>G

1 paper

NM_000038.6

p.P2048_K2057del10

c.6142_6170del30

3 papers

NM_000038.6

p.M2047V

c.6139A>G

1 paper

NM_000038.6

p.P2048Q

c.6143C>A

1 paper

NM_000038.6

p.P2048Fs

c.6143delinsCAFs

1 paper

NM_000038.6

p.K2049E

c.6145A>G

2 papers

NM_000038.6

p.A2046G

c.6137C>G

1 paper

NM_000038.6

p.K2049R

c.6146A>G

3 papers

NM_000038.6

p.A2046T

c.6136G>A