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

5 papers

NM_000038.6

p.E1309delFs

c.3926delA

Surrounding Variants

5 papers

NM_000038.6

p.E1309K

c.3925G>A

1 paper

NM_000038.6

p.E1309Q

c.3925G>C

3 papers

NM_000038.6

p.K1310insFs

c.3929dupA

82 papers

NM_000038.6

p.E1309fs

c.3925_3926fs

73 papers

NM_000038.6

p.E1309*

c.3925G>T

5 papers

NM_000038.6

p.K1310delFs

c.3928_3929delAA

72 papers

NM_000038.6

p.E1309fs

c.3925_3926fs

1 paper

NM_000038.6

p.E1309_K1310delFs

c.3926_3929del4

1 paper

NM_000038.6

p.K1308_E1309insFs

c.3924_3925insT

3 papers

NM_000038.6

p.E1309G

c.3926A>G

3 papers

NM_000038.6

p.E1309delFs

c.3925delG

1 paper

NM_000038.6

p.E1309_K1310del2

c.3925_3929del6