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

19 papers

NM_000038.6

p.S1126R

c.3376A>C

Surrounding Variants

1 paper

NM_000038.6

p.S1126G

c.3376A>G

2 papers

NM_000038.6

p.S1126C

c.3376A>T

1 paper

NM_000038.6

p.S1126N

c.3377G>A

19 papers

NM_000038.6

p.S1126R

c.3378C>A

19 papers

NM_000038.6

p.S1126R

c.3378C>G

30 papers

NM_000038.6

p.V1125A

c.3374T>C

1 paper

NM_000038.6

p.Q1127insFs

c.3380_3381dupAG

6 papers

NM_000038.6

p.Q1127*

c.3379C>T

1 paper

NM_000038.6

p.V1125I

c.3373G>A

1 paper

NM_000038.6

p.V1125fs

c.3373_3374fs

1 paper

NM_000038.6

p.V1125delFs

c.3374delT

1 paper

NM_000038.6

p.Q1127L

c.3380A>T