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

6 papers

NM_000038.6

p.R850*

c.2548A>T

Surrounding Variants

1 paper

NM_000038.6

p.R850fs

c.2548_2549fs

2 papers

NM_000038.6

p.R850K

c.2549G>A

1 paper

NM_000038.6

p.D849E

c.2547T>A

1 paper

NM_000038.6

p.D849D

c.2547T>C

2 papers

NM_000038.6

p.D849E

c.2547T>G

1 paper

NM_000038.6

p.R850_S851delFs

c.2548_2551del4

1 paper

NM_000038.6

p.D849H

c.2545G>C

14 papers

NM_000038.6

p.D849fs

c.2545_2546fs

7 papers

NM_000038.6

p.D849_R850delFs

c.2547_2548delTA

17 papers

NM_000038.6

p.D849fs

c.2545_2546fs

1 paper

NM_000038.6

p.D849_S851del0

c.2546_2551del6

1 paper

NM_000038.6

p.D849delFs

c.2545delG