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.S1341_L1342insFs

c.4023_4024ins11

Surrounding Variants

4 papers

NM_000038.6

p.S1341R

c.4023T>A

5 papers

NM_000038.6

p.S1341R

c.4023T>G

1 paper

NM_000038.6

p.L1342_S1346delFs

c.4024_4037del14

1 paper

NM_000038.6

p.L1342_S1346del5

c.4024_4037del15

1 paper

NM_000038.6

p.S1341insFs

c.4022_4023ins22

6 papers

NM_000038.6

p.L1342insFs

c.4025dupT

3 papers

NM_000038.6

p.L1342fs

c.4024_4025fs

1 paper

NM_000038.6

p.L1342fs

c.4024_4025fs

2 papers

NM_000038.6

p.S1341fs

c.4021_4022fs

4 papers

NM_000038.6

p.S1341R

c.4021A>C

3 papers

NM_000038.6

p.S1341delFs

c.4022delG

5 papers

NM_000038.6

p.L1342*

c.4025T>A