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.M2419I

c.7257G>T

Surrounding Variants

2 papers

NM_000038.6

p.M2419I

c.7257G>A

2 papers

NM_000038.6

p.M2419I

c.7257G>C

1 paper

NM_000038.6

p.S2420delFs

c.7260delT

1 paper

NM_000038.6

p.S2420S

c.7260T>C

1 paper

NM_000038.6

p.R2418T

c.7253G>C

1 paper

NM_000038.6

p.S2421T

c.7261T>A

1 paper

NM_000038.6

p.R2418G

c.7252A>G

1 paper

NM_000038.6

p.S2421*

c.7262C>A

1 paper

NM_000038.6

p.S2421*

c.7262C>G

1 paper

NM_000038.6

p.S2421L

c.7262C>T

1 paper

NM_000038.6

p.R2418_M2419del2

c.7252_7256del6

1 paper

NM_000038.6

p.T2422A

c.7264A>G