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.P2222H

c.6665C>A

Surrounding Variants

1 paper

NM_000038.6

p.P2222L

c.6665C>T

1 paper

NM_000038.6

p.P2222_S2223insT

c.6664_6668ins3

1 paper

NM_000038.6

p.P2222S

c.6664C>T

1 paper

NM_000038.6

p.M2221I

c.6663G>A

1 paper

NM_000038.6

p.M2221I

c.6663G>C

1 paper

NM_000038.6

p.M2221I

c.6663G>T

1 paper

NM_000038.6

p.P2222_R2226del5

c.6664_6677del15

1 paper

NM_000038.6

p.S2223T

c.6667T>A

1 paper

NM_000038.6

p.S2223A

c.6667T>G

1 paper

NM_000038.6

p.S2223*

c.6668C>A

1 paper

NM_000038.6

p.S2223*

c.6668C>G

1 paper

NM_000038.6

p.S2223L

c.6668C>T