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.F1396delFs

c.4187_4188delTT

Surrounding Variants

4 papers

NM_000038.6

p.S1395_F1396insFs

c.4185_4186insT

3 papers

NM_001127511.3

p.F1378delFs

c.4132delT

NM_000038.6

p.F1396delFs

c.4188delT

3 papers

NM_000038.6

p.S1395fs

c.4183_4184fs

3 papers

NM_000038.6

p.S1395G

c.4183A>G

7 papers

NM_000038.6

p.S1395C

c.4183A>T

1 paper

NM_000038.6

p.S1395fs

c.4183_4184fs

1 paper

NM_000038.6

p.D1394E

c.4182T>A

1 paper

NM_000038.6

p.F1396L

c.4186T>C

1 paper

NM_000038.6

p.D1394E

c.4182T>G

1 paper

NM_000038.6

p.S1395insFs

c.4183dupA

1 paper

NM_000038.6

p.S1395_E1397del3

c.4183_4190del9

1 paper

NM_000038.6

p.F1396fs

c.4186_4187fs