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.D1033Y

c.3097G>T

Surrounding Variants

1 paper

NM_000038.6

p.D1033N

c.3097G>A

1 paper

NM_000038.6

p.D1033fs

c.3097_3098fs

1 paper

NM_000038.6

p.D1033insFs

c.3098_3099insG

9 papers

NM_000038.6

p.S1032*

c.3095C>A

8 papers

NM_000038.6

p.S1032*

c.3095C>G

1 paper

NM_000038.6

p.S1032L

c.3095C>T

1 paper

NM_000038.6

p.S1032delFs

c.3096delA

1 paper

NM_000038.6

p.E1034insFs

c.3100dupG

1 paper

NM_000038.6

p.E1034K

c.3100G>A

1 paper

NM_000038.6

p.E1034Q

c.3100G>C

1 paper

NM_000038.6

p.E1034fs

c.3100_3101fs

2 papers

NM_000038.6

p.E1034*

c.3100G>T