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.P1381Q

c.4142C>A

Surrounding Variants

1 paper

NM_000038.6

p.P1381L

c.4142C>T

1 paper

NM_000038.6

p.P1381A

c.4141C>G

3 papers

NM_000038.6

p.P1381S

c.4141C>T

2 papers

NM_000038.6

p.P1381delins

c.4141_4142delinsAA

1 paper

NM_000038.6

p.T1380_P1381insFs

c.4140_4141insG

5 papers

NM_000038.6

p.L1382fs

c.4144_4145fs

3 papers

NM_000038.6

p.L1382F

c.4144C>T

2 papers

NM_000038.6

p.L1382fs

c.4144_4145fs

1 paper

NM_000038.6

p.M1383_V1390del8

c.4147_4169del24

1 paper

NM_000038.6

p.T1380N

c.4139C>A

3 papers

NM_000038.6

p.T1380S

c.4139C>G

4 papers

NM_000038.6

p.T1380I

c.4139C>T