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.L1280delFs

c.3839delT

Surrounding Variants

2 papers

NM_000038.6

p.S1279F

c.3836C>T

1 paper

NM_000038.6

p.L1280delFs

c.3838_3839delTT

2 papers

NM_000038.6

p.S1279A

c.3835T>G

2 papers

NM_000038.6

p.S1279S

c.3837T>G

1 paper

NM_000038.6

p.L1280_A1283delFs

c.3839_3849del11

1 paper

NM_000038.6

p.L1280fs

c.3838_3839fs

14 papers

NM_000038.6

p.S1278*

c.3833C>A

13 papers

NM_000038.6

p.S1278*

c.3833C>G

2 papers

NM_000038.6

p.S1278Fs

c.3833_3834delinsTFs

1 paper

NM_000038.6

p.L1280_S1281insFs

c.3840_3841insTC

1 paper

NM_000038.6

p.S1281delFs

c.3841delT

3 papers

NM_000038.6

p.S1278P

c.3832T>C