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.N1167N

c.3501T>C

Surrounding Variants

1 paper

NM_000038.6

p.E1168_E1169del1

c.3504_3506delAGA

5 papers

NM_000038.6

p.E1169_K1170delFs

c.3505_3509del5

5 papers

NM_000038.6

p.E1168*

c.3502G>T

1 paper

NM_000038.6

p.E1168delFs

c.3504delA

1 paper

NM_000038.6

p.N1167fs

c.3499_3500fs

1 paper

NM_000038.6

p.E1169del1

c.3505_3506delGAG

3 papers

NM_000038.6

p.Y1166*

c.3498T>A

4 papers

NM_000038.6

p.Y1166*

c.3498T>G

1 paper

NM_000038.6

p.N1167_E1168delFs

c.3501_3504del4

1 paper

NM_000038.6

p.Y1166C

c.3497A>G

1 paper

NM_000038.6

p.N1167_S1180del14

c.3499_3539del42

2 papers

NM_000038.6

p.E1169K

c.3505G>A