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

18 papers

NM_000038.6

p.Y935insFs

c.2804dupA

Surrounding Variants

1 paper

NM_000038.6

p.Y935N

c.2803T>A

1 paper

NM_000038.6

p.Y935insFs

c.2804_2805insAA

1 paper

NM_000038.6

p.Y935insFs

c.2804_2805insGA

13 papers

NM_000038.6

p.Y935fs

c.2803_2804fs

6 papers

NM_000038.6

p.Y935fs

c.2803_2804fs

1 paper

NM_000038.6

p.Y935_N936delFs

c.2805_2806delCA

1 paper

NM_000038.6

p.Y935insFs

c.2805dupC

2 papers

NM_000038.6

p.Y935delFs

c.2805delC

1 paper

NM_000038.6

p.T934T

c.2802T>A

1 paper

NM_000038.6

p.T934T

c.2802T>G

1 paper

NM_000038.6

p.Y935_K939delFs

c.2805_2815del11

96 papers

NM_000038.6

p.Y935*

c.2805C>A