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.P301fs

c.901_902fs

Surrounding Variants

7 papers

NM_000038.6

p.P301S

c.901C>T

NM_001127511.3

p.P283S

c.847C>T

1 paper

NM_000038.6

p.P301R

c.902C>G

8 papers

NM_000038.6

p.P301L

c.902C>T

1 paper

NM_000038.6

p.A300E

c.899C>A

2 papers

NM_000038.6

p.A300V

c.899C>T

86 papers

NM_000038.6

p.R302*

c.904C>T

1 paper

NM_000038.6

p.A300T

c.898G>A

1 paper

NM_000038.6

p.A300S

c.898G>T

1 paper

NM_000038.6

p.A300fs

c.898_899fs

5 papers

NM_000038.6

p.R302Q

c.905G>A

1 paper

NM_000038.6

p.R303delFs

c.907delA

1 paper

NM_000038.6

p.S299insFs

c.896_897insG