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.E2688G

c.8063A>G

Surrounding Variants

1 paper

NM_000038.6

p.E2688K

c.8062G>A

1 paper

NM_000038.6

p.S2687*

c.8060C>A

1 paper

NM_000038.6

p.S2687*

c.8060C>G

1 paper

NM_000038.6

p.S2687L

c.8060C>T

1 paper

NM_000038.6

p.S2687P

c.8059T>C

9 papers

NM_000038.6

p.A2690T

c.8068G>A

1 paper

NM_000038.6

p.A2690E

c.8069C>A

2 papers

NM_000038.6

p.A2690V

c.8069C>T

1 paper

NM_000038.6

p.V2686A

c.8057T>C

1 paper

NM_000038.6

p.V2686I

c.8056G>A

1 paper

NM_000038.6

p.N2691D

c.8071A>G

2 papers

NM_000038.6

p.S2685G

c.8053A>G