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.E1111delFs

c.3332_3333delAA

Surrounding Variants

1 paper

NM_000038.6

p.T1112insFs

c.3334dupA

4 papers

NM_000038.6

p.E1111*

c.3331G>T

1 paper

NM_000038.6

p.E1111_T1112delFs

c.3332_3335del4

1 paper

NM_000038.6

p.S1110S

c.3330A>G

1 paper

NM_000038.6

p.T1112delFs

c.3334_3335delAC

8 papers

NM_000038.6

p.S1110*

c.3329C>A

9 papers

NM_000038.6

p.S1110*

c.3329C>G

1 paper

NM_000038.6

p.S1110L

c.3329C>T

1 paper

NM_000038.6

p.S1110_E1111delFs

c.3330_3331delAG

1 paper

NM_000038.6

p.T1112fs

c.3334_3335fs

1 paper

NM_000038.6

p.T1112fs

c.3334_3335fs

3 papers

NM_000038.6

p.T1112_R1114delFs

c.3336_3340del5