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.A1236S

c.3706G>T

Surrounding Variants

1 paper

NM_000038.6

p.A1236T

c.3706G>A

2 papers

NM_000038.6

p.A1236fs

c.3706_3707fs

1 paper

NM_000038.6

p.A1236insFs

c.3706_3707insTC

4 papers

NM_000038.6

p.A1236delFs

c.3707_3708delCA

1 paper

NM_000038.6

p.S1238_Q1242del0

c.3712_3726del15

1 paper

NM_000038.6

p.S1235Y

c.3704C>A

2 papers

NM_000038.6

p.S1235F

c.3704C>T

2 papers

NM_000038.6

p.Q1237fs

c.3709_3710fs

6 papers

NM_000038.6

p.Q1237*

c.3709C>T

1 paper

NM_000038.6

p.S1238delFs

c.3712_3713delAG

1 paper

NM_000038.6

p.Q1237fs

c.3709_3710fs

1 paper

NM_000038.6

p.S1234S

c.3702T>C