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.K1768N

c.5304G>T

Surrounding Variants

1 paper

NM_000038.6

p.K1768N

c.5304G>C

1 paper

NM_000038.6

p.K1770M

c.5309A>T

2 papers

NM_000038.6

p.G1767S

c.5299G>A

2 papers

NM_000038.6

p.G1767C

c.5299G>T

2 papers

NM_000038.6

p.K1770N

c.5310G>C

2 papers

NM_000038.6

p.K1770N

c.5310G>T

2 papers

NM_000038.6

p.D1766G

c.5297A>G

1 paper

NM_000038.6

p.D1766N

c.5296G>A

1 paper

NM_000038.6

p.D1766H

c.5296G>C

1 paper

NM_000038.6

p.L1765S

c.5294T>C

3 papers

NM_000038.6

p.P1772insFs

c.5316dupA

1 paper

NM_000038.6

p.Q1764R

c.5291A>G