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

7 papers

NM_000038.6

p.S1465R

c.4395T>G

Surrounding Variants

7 papers

NM_000038.6

p.S1465R

c.4395T>A

1 paper

NM_000038.6

p.S1465_G1466insFs

c.4395_4396insAG

4 papers

NM_000038.6

p.G1466R

c.4396G>A

1 paper

NM_000038.6

p.S1465N

c.4394G>A

4 papers

NM_000038.6

p.G1466R

c.4396G>C

3 papers

NM_000038.6

p.G1466fs

c.4396_4397fs

6 papers

NM_000038.6

p.G1466*

c.4396G>T

4 papers

NM_000038.6

p.S1465delFs

c.4395delT

1 paper

NM_000038.6

p.S1465insFs

c.4393_4394insAG

67 papers

NM_000038.6

p.S1465fs

c.4393_4394fs

2 papers

NM_000038.6

p.S1465_G1466insSVA

c.4393_4397ins9

7 papers

NM_000038.6

p.S1465R

c.4393A>C