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

6 papers

NM_000038.6

p.P1594fs

c.4780_4781fs

Surrounding Variants

4 papers

NM_000038.6

p.P1594fs

c.4780_4781fs

1 paper

NM_000038.6

p.P1594L

c.4781C>T

1 paper

NM_000038.6

p.K1593N

c.4779G>C

1 paper

NM_000038.6

p.K1593E

c.4777A>G

2 papers

NM_000038.6

p.K1593fs

c.4777_4778fs

3 papers

NM_000038.6

p.P1594_A1595delFs

c.4782_4785del4

1 paper

NM_000038.6

p.A1595T

c.4783G>A

4 papers

NM_000038.6

p.Q1596delFs

c.4786delC

1 paper

NM_000038.6

p.A1595fs

c.4783_4784fs

2 papers

NM_000038.6

p.A1595V

c.4784C>T

1 paper

NM_000038.6

p.K1592E

c.4774A>G

1 paper

NM_000038.6

p.Q1596fs

c.4786_4787fs