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.D1637fs

c.4909_4910fs

Surrounding Variants

1 paper

NM_000038.6

p.D1637N

c.4909G>A

1 paper

NM_000038.6

p.D1637Y

c.4909G>T

1 paper

NM_000038.6

p.D1636E

c.4908T>A

1 paper

NM_000038.6

p.D1636E

c.4908T>G

1 paper

NM_000038.6

p.D1637_V1641delFs

c.4910_4923del14

3 papers

NM_000038.6

p.D1637E

c.4911T>A

3 papers

NM_000038.6

p.D1637E

c.4911T>G

1 paper

NM_000038.6

p.M1638V

c.4912A>G

3 papers

NM_000038.6

p.D1636N

c.4906G>A

5 papers

NM_000038.6

p.D1636fs

c.4906_4907fs

1 paper

NM_000038.6

p.D1636Y

c.4906G>T

3 papers

NM_000038.6

p.D1636fs

c.4906_4907fs