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

4 papers

NM_000038.6

p.E484Q

c.1450G>C

Surrounding Variants

12 papers

NM_000038.6

p.E484K

c.1450G>A

1 paper

NM_000038.6

p.E484_M485insFs

c.1452_1453insAA

1 paper

NM_000038.6

p.M485delFs

c.1453delA

2 papers

NM_000038.6

p.E484A

c.1451A>C

1 paper

NM_000038.6

p.E484G

c.1451A>G

1 paper

NM_000038.6

p.E484_M485delFs

c.1452_1455del4

1 paper

NM_000038.6

p.C483*

c.1449T>A

2 papers

NM_000038.6

p.C483C

c.1449T>C

1 paper

NM_000038.6

p.E484D

c.1452A>C

1 paper

NM_000038.6

p.E484D

c.1452A>T

1 paper

NM_000038.6

p.C483Y

c.1448G>A

1 paper

NM_000038.6

p.M485fs

c.1453_1454fs