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.L1489_F1491delFs

c.4467_4471del5

Surrounding Variants

15 papers

NM_000038.6

p.L1488*

c.4463T>A

2 papers

NM_000038.6

p.L1488S

c.4463T>C

15 papers

NM_000038.6

p.L1488*

c.4463T>G

1 paper

NM_000038.6

p.L1489_F1491insFs

c.4467_4471dup5

4 papers

NM_000038.6

p.L1488delFs

c.4464delA

1 paper

NM_000038.6

p.L1488_H1490Fs

c.4463_4470delinsAFs

1 paper

NM_000038.6

p.L1489_E1494delFs

c.4465_4481del17

1 paper

NM_000038.6

p.L1488_L1489insFs

c.4464_4465insT

4 papers

NM_000038.6

p.L1488F

c.4464A>C

4 papers

NM_000038.6

p.L1488F

c.4464A>T

5 papers

NM_000038.6

p.L1489delFs

c.4466delT

1 paper

NM_000038.6

p.L1489_F1491delFs

c.4467_4473del7