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.K561R

c.1682A>G

Surrounding Variants

3 papers

NM_000038.6

p.K561fs

c.1681_1682fs

1 paper

NM_000038.6

p.K561_T562delFs

c.1683_1684delGA

3 papers

NM_000038.6

p.K561fs

c.1681_1682fs

2 papers

NM_000038.6

p.K561_T562insFs

c.1683_1684insA

1 paper

NM_000038.6

p.T562delFs

c.1684delA

2 papers

NM_000038.6

p.T562insFs

c.1685_1686insCC

1 paper

NM_000038.6

p.T562fs

c.1684_1685fs

1 paper

NM_000038.6

p.T562A

c.1684A>G

1 paper

NM_000038.6

p.T562S

c.1684A>T

2 papers

NM_000038.6

p.T562fs

c.1684_1685fs

1 paper

NM_000038.6

p.L563_R564delFs

c.1687_1691del5

8 papers

NM_000038.6

p.T562M

c.1685C>T