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.S1434I

c.4301G>T

Surrounding Variants

2 papers

NM_000038.6

p.S1434N

c.4301G>A

1 paper

NM_000038.6

p.S1434_R1435delFs

c.4302_4303delCA

1 paper

NM_000038.6

p.R1435_P1442delFs

c.4303_4324del22

2 papers

NM_000038.6

p.S1434fs

c.4300_4301fs

1 paper

NM_000038.6

p.S1434C

c.4300A>T

2 papers

NM_000038.6

p.S1434delFs

c.4301delG

1 paper

NM_000038.6

p.S1434fs

c.4300_4301fs

1 paper

NM_000038.6

p.R1435delFs

c.4303delA

1 paper

NM_000038.6

p.R1435insFs

c.4303_4304insC

4 papers

NM_000038.6

p.R1435fs

c.4303_4304fs

1 paper

NM_000038.6

p.R1435_S1436insA

c.4303_4307ins3

5 papers

NM_000038.6

p.R1435*

c.4303A>T