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.L48F

c.142C>T

Surrounding Variants

2 papers

NM_000038.6

p.L48I

c.142C>A

3 papers

NM_000038.6

p.L48P

c.143T>C

1 paper

NM_000038.6

p.L48L

c.144T>A

2 papers

NM_000038.6

p.V47A

c.140T>C

1 paper

NM_000038.6

p.L48_K49insFs

c.144_145ins4

1 paper

NM_000038.6

p.L48_K49insFs

c.144_145ins5

1 paper

NM_000038.6

p.V47delFs

c.141delA

1 paper

NM_000038.6

p.K49delFs

c.146delA

6 papers

NM_000038.6

p.K49_Q50delFs

c.147_150del4

1 paper

NM_000038.6

p.K49_Q50del2

c.145_149del6

3 papers

NM_000038.6

p.K49E

c.145A>G

1 paper

NM_000038.6

p.K49*

c.145A>T