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

99 papers

NM_000038.6

p.R564*

c.1690C>T

Surrounding Variants

103 papers

NM_000038.6

p.R564Q

c.1691G>A

3 papers

NM_001127511.3

p.L545L

c.1635G>A

1 paper

NM_000038.6

p.R564delFs

c.1690delC

1 paper

NM_000038.6

p.R564_K570delFs

c.1690_1708del19

1 paper

NM_000038.6

p.L563*

c.1688T>A

1 paper

NM_000038.6

p.E565K

c.1693G>A

1 paper

NM_000038.6

p.E565*

c.1693G>T

1 paper

NM_000038.6

p.L563L

c.1687T>C

1 paper

NM_000038.6

p.L563fs

c.1687_1688fs

1 paper

NM_000038.6

p.E565G

c.1694A>G

2 papers

NM_000038.6

p.T562T

c.1686G>A

2 papers

NM_000038.6

p.L563delFs

c.1688delT