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.S2031_I2032Fs

c.6092_6094delinsTTFs

Surrounding Variants

1 paper

NM_000038.6

p.S2031N

c.6092G>A

1 paper

NM_000038.6

p.I2032del1

c.6094_6096delATT

1 paper

NM_000038.6

p.S2031fs

c.6091_6092fs

1 paper

NM_000038.6

p.I2032V

c.6094A>G

1 paper

NM_000038.6

p.I2032fs

c.6094_6095fs

1 paper

NM_000038.6

p.I2032_S2034delFs

c.6096_6102del7

1 paper

NM_000038.6

p.L2030Fs

c.6089delinsCAFs

2 papers

NM_000038.6

p.S2031_S2034del4

c.6091_6101del12

1 paper

NM_000038.6

p.D2033N

c.6097G>A

2 papers

NM_000038.6

p.D2033G

c.6098A>G

3 papers

NM_000038.6

p.S2029Y

c.6086C>A

2 papers

NM_000038.6

p.D2033E

c.6099C>A