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.K2814E

c.8440A>G

Surrounding Variants

1 paper

NM_000038.6

p.K2814fs

c.8440_8441fs

1 paper

NM_000038.6

p.T2813K

c.8438C>A

2 papers

NM_000038.6

p.T2813I

c.8438C>T

1 paper

NM_000038.6

p.K2814_K2815delFs

c.8441_8444del4

1 paper

NM_000038.6

p.K2814N

c.8442G>C

1 paper

NM_000038.6

p.K2814N

c.8442G>T

1 paper

NM_000038.6

p.T2813A

c.8437A>G

1 paper

NM_000038.6

p.K2815E

c.8443A>G

1 paper

NM_000038.6

p.N2812K

c.8436C>A

1 paper

NM_000038.6

p.N2812K

c.8436C>G

1 paper

NM_000038.6

p.T2813_K2814del2

c.8437_8441del6

1 paper

NM_000038.6

p.R2816_D2817del2

c.8446_8450del6