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.E1379fs

c.4135_4136fs

Surrounding Variants

1 paper

NM_000038.6

p.E1379K

c.4135G>A

64 papers

NM_000038.6

p.E1379*

c.4135G>T

1 paper

NM_000038.6

p.E1379delFs

c.4136delA

1 paper

NM_000038.6

p.E1379fs

c.4135_4136fs

2 papers

NM_000038.6

p.E1379G

c.4136A>G

1 paper

NM_000038.6

p.Q1378_E1379insFs

c.4134_4135insA

1 paper

NM_000038.6

p.E1379delFs

c.4135_4136delGA

3 papers

NM_000038.6

p.P1381insFs

c.4142dupC

1 paper

NM_000038.6

p.T1380fs

c.4138_4139fs

2 papers

NM_000038.6

p.T1380S

c.4138A>T

1 paper

NM_000038.6

p.P1381delFs

c.4142delC

4 papers

NM_000038.6

p.Q1378fs

c.4132_4133fs