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

3 papers

NM_000038.6

p.S1219insFs

c.3656_3657dupCC

Surrounding Variants

3 papers

NM_000038.6

p.S1219delFs

c.3657delC

11 papers

NM_000038.6

p.T1218M

c.3653C>T

1 paper

NM_000038.6

p.T1220fs

c.3658_3659fs

1 paper

NM_000038.6

p.T1218delFs

c.3653delC

2 papers

NM_000038.6

p.T1220fs

c.3658_3659fs

1 paper

NM_000038.6

p.T1220I

c.3659C>T

5 papers

NM_000038.6

p.N1217T

c.3650A>C

1 paper

NM_000038.6

p.P1221insFs

c.3661_3662insCA

1 paper

NM_000038.6

p.P1221fs

c.3661_3662fs

2 papers

NM_000038.6

p.P1221S

c.3661C>T

1 paper

NM_000038.6

p.E1216D

c.3648G>T

1 paper

NM_000038.6

p.E1216insFs

c.3647_3648ins7