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.C947fs

c.2839_2840fs

Surrounding Variants

2 papers

NM_000038.6

p.C947S

c.2839T>A

2 papers

NM_000038.6

p.C947fs

c.2839_2840fs

2 papers

NM_000038.6

p.C947delFs

c.2840delG

1 paper

NM_000038.6

p.T946T

c.2838A>G

1 paper

NM_000038.6

p.C947delFs

c.2840_2841delGT

1 paper

NM_000038.6

p.C947Y

c.2840G>A

2 papers

NM_000038.6

p.C947S

c.2840G>C

2 papers

NM_000038.6

p.S948_L964delFs

c.2843_2891del49

1 paper

NM_000038.6

p.T946I

c.2837C>T

2 papers

NM_000038.6

p.T946_C947delFs

c.2838_2839delAT

1 paper

NM_000038.6

p.C947_M949delFs

c.2840_2846del7

1 paper

NM_000038.6

p.C947*

c.2841T>A