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

3 papers

NM_000038.6

p.K2703E

c.8107A>G

Surrounding Variants

1 paper

NM_000038.6

p.Q2704*

c.8110C>T

1 paper

NM_000038.6

p.A2702T

c.8104G>A

1 paper

NM_000038.6

p.Q2704R

c.8111A>G

1 paper

NM_000038.6

p.Q2701R

c.8102A>G

1 paper

NM_000038.6

p.N2705D

c.8113A>G

1 paper

NM_000038.6

p.Q2701*

c.8101C>T

1 paper

NM_000038.6

p.N2705S

c.8114A>G

1 paper

NM_000038.6

p.N2700T

c.8099A>C

1 paper

NM_000038.6

p.N2700S

c.8099A>G

2 papers

NM_000038.6

p.V2706_G2707delFs

c.8118_8121del4

2 papers

NM_000038.6

p.V2706M

c.8116G>A

1 paper

NM_000038.6

p.V2706A

c.8117T>C