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.T1313insFs

c.3938_3939insG

Surrounding Variants

1 paper

NM_000038.6

p.T1313Fs

c.3938delinsCTTFs

2 papers

NM_000038.6

p.T1313I

c.3938C>T

1 paper

NM_000038.6

p.T1313delFs

c.3939delT

1 paper

NM_000038.6

p.T1313fs

c.3937_3938fs

3 papers

NM_000038.6

p.T1313A

c.3937A>G

1 paper

NM_000038.6

p.T1313fs

c.3937_3938fs

1 paper

NM_000038.6

p.R1314delFs

c.3940delA

1 paper

NM_000038.6

p.R1314delFs

c.3940_3941delAG

1 paper

NM_000038.6

p.R1314insFs

c.3940_3941insG

4 papers

NM_000038.6

p.R1314fs

c.3940_3941fs

1 paper

NM_000038.6

p.T1313_D1318del6

c.3937_3953del18

6 papers

NM_000038.6

p.R1314delFs

c.3942delG