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.S1205R

c.3613A>C

Surrounding Variants

1 paper

NM_000038.6

p.S1205fs

c.3613_3614fs

1 paper

NM_000038.6

p.S1205insFs

c.3614_3615insA

1 paper

NM_000038.6

p.S1205delFs

c.3615delC

1 paper

NM_000038.6

p.S1205R

c.3615C>A

1 paper

NM_000038.6

p.S1205R

c.3615C>G

1 paper

NM_000038.6

p.S1206R

c.3616A>C

1 paper

NM_000038.6

p.S1206G

c.3616A>G

1 paper

NM_000038.6

p.S1206fs

c.3616_3617fs

5 papers

NM_000038.6

p.Q1204*

c.3610C>T

5 papers

NM_000038.6

p.S1205delFs

c.3613delA

2 papers

NM_000038.6

p.G1203G

c.3609A>C

1 paper

NM_000038.6

p.S1206N

c.3617G>A