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.T899A

c.2695A>G

Surrounding Variants

1 paper

NM_000038.6

p.T899delFs

c.2697delC

1 paper

NM_000038.6

p.T899delFs

c.2696_2697delCC

2 papers

NM_000038.6

p.T899fs

c.2695_2696fs

1 paper

NM_000038.6

p.T899N

c.2696C>A

1 paper

NM_000038.6

p.T899I

c.2696C>T

3 papers

NM_000038.6

p.S900_Q901delFs

c.2700_2701delTC

1 paper

NM_000038.6

p.T899insFs

c.2695dupA

1 paper

NM_000038.6

p.H898P

c.2693A>C

1 paper

NM_000038.6

p.H898R

c.2693A>G

1 paper

NM_000038.6

p.H898L

c.2693A>T

1 paper

NM_000038.6

p.H898fs

c.2692_2693fs

1 paper

NM_000038.6

p.H898insFs

c.2692_2693insT