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.D812N

c.2434G>A

Surrounding Variants

2 papers

NM_000038.6

p.D812fs

c.2434_2435fs

1 paper

NM_000038.6

p.S811S

c.2433A>G

1 paper

NM_000038.6

p.D812V

c.2435A>T

15 papers

NM_000038.6

p.S811*

c.2432C>A

14 papers

NM_000038.6

p.S811*

c.2432C>G

1 paper

NM_000038.6

p.S811L

c.2432C>T

1 paper

NM_000038.6

p.N813fs

c.2437_2438fs

1 paper

NM_000038.6

p.S811delFs

c.2432delC

2 papers

NM_000038.6

p.D812_N813delFs

c.2434_2437del4

10 papers

NM_000038.6

p.N813S

c.2438A>G

1 paper

NM_000038.6

p.F814delFs

c.2442delT

1 paper

NM_000038.6

p.S811delFs

c.2431_2432delTC