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

2 papers

NM_000038.6

p.S2494P

c.7480T>C

Surrounding Variants

2 papers

NM_000038.6

p.S2494F

c.7481C>T

2 papers

NM_000038.6

p.L2493P

c.7478T>C

1 paper

NM_000038.6

p.L2493R

c.7478T>G

1 paper

NM_000038.6

p.L2493V

c.7477C>G

1 paper

NM_000038.6

p.L2493fs

c.7477_7478fs

1 paper

NM_000038.6

p.T2495I

c.7484C>T

1 paper

NM_000038.6

p.H2496Y

c.7486C>T

3 papers

NM_000038.6

p.S2492_L2493insA

c.7474_7478ins3

4 papers

NM_000038.6

p.S2497insFs

c.7489_7490insT

1 paper

NM_000038.6

p.H2496R

c.7487A>G

1 paper

NM_000038.6

p.M2491I

c.7473G>A

1 paper

NM_000038.6

p.M2491I

c.7473G>C