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

10 papers

NM_000038.6

p.S1276*

c.3827C>A

Surrounding Variants

11 papers

NM_000038.6

p.S1276*

c.3827C>G

2 papers

NM_000038.6

p.S1276L

c.3827C>T

4 papers

NM_000038.6

p.L1277delFs

c.3830delT

1 paper

NM_000038.6

p.S1276T

c.3826T>A

1 paper

NM_000038.6

p.S1276A

c.3826T>G

1 paper

NM_000038.6

p.L1277fs

c.3829_3830fs

3 papers

NM_000038.6

p.S1275N

c.3824G>A

2 papers

NM_000038.6

p.S1275T

c.3824G>C

1 paper

NM_000038.6

p.S1275I

c.3824G>T

3 papers

NM_000038.6

p.S1276delFs

c.3826delT

1 paper

NM_000038.6

p.S1276_L1277delFs

c.3827_3830del4

1 paper

NM_000038.6

p.L1277*

c.3830T>A