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.A1460fs

c.4378_4379fs

Surrounding Variants

1 paper

NM_000038.6

p.A1460_E1461insFs

c.4380_4381insTT

1 paper

NM_000038.6

p.A1460V

c.4379C>T

1 paper

NM_000038.6

p.A1460delFs

c.4380delT

1 paper

NM_000038.6

p.T1459_A1460insFs

c.4377_4378insA

1 paper

NM_000038.6

p.T1459_A1460delins

c.4377_4379delinsCTT

1 paper

NM_000038.6

p.A1460_K1462del3

c.4378_4385del9

2 papers

NM_000038.6

p.T1459N

c.4376C>A

2 papers

NM_000038.6

p.T1459S

c.4376C>G

1 paper

NM_000038.6

p.T1459delFs

c.4377delT

1 paper

NM_000038.6

p.T1459_A1460delFs

c.4377_4378delTG

1 paper

NM_000038.6

p.E1461insFs

c.4381_4382insG

1 paper

NM_000038.6

p.E1461_R1463insFs

c.4383_4387dup5