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.L1489S

c.4466T>C

Surrounding Variants

8 papers

NM_000038.6

p.L1489*

c.4466T>A

8 papers

NM_000038.6

p.L1489*

c.4466T>G

2 papers

NM_000038.6

p.H1490insFs

c.4468_4469dupCA

1 paper

NM_000038.6

p.L1489delFs

c.4467delA

2 papers

NM_000038.6

p.H1490delFs

c.4468_4469delCA

1 paper

NM_000038.6

p.L1489_H1490insFs

c.4467_4468ins7

4 papers

NM_000038.6

p.H1490delFs

c.4468delC

1 paper

NM_000038.6

p.H1490_A1492delFs

c.4468_4474del7

1 paper

NM_000038.6

p.L1489I

c.4465T>A

2 papers

NM_000038.6

p.L1489insFs

c.4465_4466insAC

1 paper

NM_000038.6

p.L1489insFs

c.4465_4466ins7

15 papers

NM_000038.6

p.L1489fs

c.4465_4466fs