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.K848fs

c.2542_2543fs

Surrounding Variants

1 paper

NM_000038.6

p.K848Q

c.2542A>C

1 paper

NM_000038.6

p.K848E

c.2542A>G

3 papers

NM_000038.6

p.K848*

c.2542A>T

1 paper

NM_000038.6

p.E847D

c.2541A>T

1 paper

NM_001127511.3

p.K830_L834del5

c.2488_2501del15

13 papers

NM_000038.6

p.D849_R850delFs

c.2547_2550del4

1 paper

NM_000038.6

p.E847A

c.2540A>C

1 paper

NM_000038.6

p.D849delFs

c.2545delG

1 paper

NM_000038.6

p.E847Q

c.2539G>C

1 paper

NM_000038.6

p.D849H

c.2545G>C

7 papers

NM_000038.6

p.K848_D849insFs

c.2544_2545insA

14 papers

NM_000038.6

p.D849fs

c.2545_2546fs