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.R2565S

c.7695A>C

Surrounding Variants

1 paper

NM_000038.6

p.R2565S

c.7695A>T

3 papers

NM_000038.6

p.R2566*

c.7696A>T

2 papers

NM_000038.6

p.R2565K

c.7694G>A

2 papers

NM_000038.6

p.R2565I

c.7694G>T

2 papers

NM_000038.6

p.R2566K

c.7697G>A

2 papers

NM_000038.6

p.W2564*

c.7692G>A

1 paper

NM_001127511.3

p.R2547_G2550del4

c.7639_7649del12

2 papers

NM_000038.6

p.W2564*

c.7691G>A

1 paper

NM_000038.6

p.T2567I

c.7700C>T

1 paper

NM_000038.6

p.W2564R

c.7690T>A

1 paper

NM_000038.6

p.W2564R

c.7690T>C

1 paper

NM_000038.6

p.T2563S

c.7688C>G