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.T1292S

c.3874A>T

Surrounding Variants

1 paper

NM_000038.6

p.T1292fs

c.3874_3875fs

16 papers

NM_000038.6

p.T1292M

c.3875C>T

1 paper

NM_000038.6

p.T1292delFs

c.3876delG

1 paper

NM_000038.6

p.T1293_Q1294del2

c.3877_3881del6

1 paper

NM_000038.6

p.Q1291_T1292insFs

c.3873_3874insA

2 papers

NM_000038.6

p.Q1291R

c.3872A>G

1 paper

NM_000038.6

p.T1292T

c.3876G>T

2 papers

NM_000038.6

p.Q1294delFs

c.3880_3881delCA

1 paper

NM_000038.6

p.T1293fs

c.3877_3878fs

1 paper

NM_000038.6

p.T1293A

c.3877A>G

3 papers

NM_000038.6

p.Q1291insFs

c.3872_3873insA

5 papers

NM_000038.6

p.Q1291E

c.3871C>G