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

2 papers

NM_000038.6

p.Q1127H

c.3381G>C

Surrounding Variants

2 papers

NM_000038.6

p.Q1127H

c.3381G>T

1 paper

NM_000038.6

p.Q1127L

c.3380A>T

1 paper

NM_000038.6

p.Q1127insFs

c.3380_3381dupAG

1 paper

NM_000038.6

p.S1128insFs

c.3383_3384insT

6 papers

NM_000038.6

p.Q1127*

c.3379C>T

19 papers

NM_000038.6

p.S1126R

c.3378C>A

19 papers

NM_000038.6

p.S1126R

c.3378C>G

1 paper

NM_000038.6

p.S1126N

c.3377G>A

1 paper

NM_000038.6

p.L1129V

c.3385T>G

1 paper

NM_000038.6

p.L1129fs

c.3385_3386fs

19 papers

NM_000038.6

p.S1126R

c.3376A>C

1 paper

NM_000038.6

p.S1126G

c.3376A>G