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

2 papers

NM_000038.6

p.K1555fs

c.4663_4664fs

Surrounding Variants

1 paper

NM_000038.6

p.K1555*

c.4663A>T

1 paper

NM_000038.6

p.E1554E

c.4662A>G

1 paper

NM_000038.6

p.K1555_T1556delins

c.4665_4666delinsGC

1 paper

NM_001127511.3

p.T1538delFs

c.4612_4613delAC

2 papers

NM_000038.6

p.T1556insFs

c.4667_4668insC

1 paper

NM_000038.6

p.T1556Fs

c.4666delinsAGFs

117 papers

NM_000038.6

p.T1556fs

c.4666_4667fs

1 paper

NM_000038.6

p.T1556P

c.4666A>C

1 paper

NM_000038.6

p.T1556A

c.4666A>G

2 papers

NM_000038.6

p.T1556delFs

c.4667delC

1 paper

NM_000038.6

p.T1556Fs

c.4666_4667delinsTFs

61 papers

NM_000038.6

p.T1556fs

c.4666_4667fs