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

17 papers

NM_000038.6

p.A146V

c.437C>T

Surrounding Variants

1 paper

NM_000038.6

p.A146G

c.437C>G

41 papers

NM_000038.6

p.A146T

c.436G>A

6 papers

NM_000038.6

p.A146P

c.436G>C

4 papers

NM_000038.6

p.A146S

c.436G>T

4 papers

NM_000038.6

p.A146A

c.438T>A

1 paper

NM_000038.6

p.A146A

c.438T>C

1 paper

NM_000038.6

p.D147delFs

c.439delG

4 papers

NM_000038.6

p.D147_K150del4

c.439_449del12

3 papers

NM_000038.6

p.D147N

c.439G>A

1 paper

NM_000038.6

p.D147Y

c.439G>T

1 paper

NM_000038.6

p.D147G

c.440A>G

1 paper

NM_000038.6

p.L145P

c.434T>C