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.S1362delFs

c.4084_4085delTC

Surrounding Variants

8 papers

NM_000038.6

p.P1361L

c.4082C>T

1 paper

NM_000038.6

p.P1361T

c.4081C>A

4 papers

NM_000038.6

p.P1361fs

c.4081_4082fs

2 papers

NM_000038.6

p.P1361S

c.4081C>T

3 papers

NM_000038.6

p.S1362fs

c.4084_4085fs

2 papers

NM_000038.6

p.P1361delFs

c.4081_4082delCC

1 paper

NM_000038.6

p.S1360_P1361insFs

c.4080_4081insT

4 papers

NM_000038.6

p.S1362F

c.4085C>T

2 papers

NM_000038.6

p.S1360F

c.4079C>T

1 paper

NM_000038.6

p.S1364insFs

c.4090_4091insA

1 paper

NM_000038.6

p.S1362S

c.4086C>T

1 paper

NM_000038.6

p.S1364delFs

c.4090delA