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

3 papers

NM_000038.6

p.I1401delFs

c.4203delT

Surrounding Variants

6 papers

NM_000038.6

p.I1401fs

c.4201_4202fs

1 paper

NM_000038.6

p.I1401V

c.4201A>G

2 papers

NM_000038.6

p.I1401delFs

c.4202_4203delTT

4 papers

NM_000038.6

p.I1401fs

c.4201_4202fs

1 paper

NM_000038.6

p.S1400S

c.4200G>A

1 paper

NM_000038.6

p.I1401del1

c.4201_4202delATT

1 paper

NM_000038.6

p.I1401N

c.4202T>A

21 papers

NM_000038.6

p.S1400*

c.4199C>A

18 papers

NM_000038.6

p.S1400L

c.4199C>T

1 paper

NM_000038.6

p.I1401I

c.4203T>A

2 papers

NM_000038.6

p.A1402T

c.4204G>A

2 papers

NM_000038.6

p.A1402fs

c.4204_4205fs