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.P1441_P1443insFs

c.4323_4327dup5

Surrounding Variants

1 paper

NM_000038.6

p.P1441fs

c.4321_4322fs

3 papers

NM_000038.6

p.P1441A

c.4321C>G

1 paper

NM_000038.6

p.P1441_P1442delFs

c.4323_4324delAC

1 paper

NM_000038.6

p.P1441fs

c.4321_4322fs

1 paper

NM_000038.6

p.P1441_P1442delFs

c.4322_4325del4

1 paper

NM_000038.6

p.P1441_P1442delFs

c.4323_4326del4

1 paper

NM_001127511.3

p.P1422insFs

c.4266dupA

1 paper

NM_000038.6

p.P1440L

c.4319C>T

3 papers

NM_000038.6

p.P1440delFs

c.4320delA

10 papers

NM_000038.6

p.P1440fs

c.4318_4319fs

2 papers

NM_000038.6

p.P1442fs

c.4324_4325fs

5 papers

NM_001354897.2

p.P1450S

c.4348C>T

NM_000038.6

p.P1440S

c.4318C>T