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

22 papers

NM_000038.6

p.E1577*

c.4729G>T

Surrounding Variants

2 papers

NM_000038.6

p.E1577K

c.4729G>A

2 papers

NM_000038.6

p.E1577fs

c.4729_4730fs

1 paper

NM_000038.6

p.E1577_C1578insT

c.4729_4733ins3

1 paper

NM_000038.6

p.E1577delFs

c.4730delA

3 papers

NM_000038.6

p.E1577fs

c.4729_4730fs

1 paper

NM_000038.6

p.C1578delFs

c.4732delT

5 papers

NM_000038.6

p.C1578delFs

c.4733_4734delGT

1 paper

NM_000038.6

p.C1578del1

c.4732_4733delTGT

1 paper

NM_000038.6

p.E1576insFs

c.4728dupA

1 paper

NM_000038.6

p.E1576fs

c.4726_4727fs

8 papers

NM_000038.6

p.E1576*

c.4726G>T

1 paper

NM_000038.6

p.E1576delFs

c.4728delA