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

3 papers

NM_000038.6

p.E1309D

c.3927A>C

Surrounding Variants

1 paper

NM_000038.6

p.K1310_D1318insFs

c.3929_3953dup25

3 papers

NM_000038.6

p.E1309D

c.3927A>T

12 papers

NM_000038.6

p.K1310fs

c.3928_3929fs

3 papers

NM_000038.6

p.E1309G

c.3926A>G

1 paper

NM_000038.6

p.K1310E

c.3928A>G

8 papers

NM_000038.6

p.K1310*

c.3928A>T

4 papers

NM_000038.6

p.K1310fs

c.3928_3929fs

1 paper

NM_000038.6

p.K1310_I1311insFs

c.3930_3931insG

1 paper

NM_000038.6

p.K1310R

c.3929A>G

1 paper

NM_000038.6

p.K1310delFs

c.3930delG

3 papers

NM_000038.6

p.K1310_I1311delFs

c.3930_3933del4

2 papers

NM_000038.6

p.I1311_G1312delFs

c.3931_3935del5