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

2 papers

NM_000038.6

p.N1818S

c.5453A>G

Surrounding Variants

1 paper

NM_000038.6

p.N1818T

c.5453A>C

1 paper

NM_000038.6

p.N1818delFs

c.5454delT

3 papers

NM_000038.6

p.N1818fs

c.5452_5453fs

1 paper

NM_000038.6

p.N1818delFs

c.5453_5454delAT

1 paper

NM_000038.6

p.N1818fs

c.5452_5453fs

1 paper

NM_000038.6

p.N1818_N1819insFs

c.5454_5455insA

1 paper

NM_000038.6

p.N1819_V1822del4

c.5455_5465del12

1 paper

NM_000038.6

p.N1819fs

c.5455_5456fs

1 paper

NM_000038.6

p.K1817_N1818insA

c.5449_5453ins3

1 paper

NM_000038.6

p.K1817*

c.5449A>T

2 papers

NM_000038.6

p.K1817insFs

c.5449dupA

1 paper

NM_000038.6

p.N1818delFs

c.5453delA