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.D807N

c.2419G>A

Surrounding Variants

2 papers

NM_000038.6

p.D807Y

c.2419G>T

2 papers

NM_000038.6

p.H806Q

c.2418T>A

2 papers

NM_000038.6

p.H806Q

c.2418T>G

1 paper

NM_000038.6

p.H806R

c.2417A>G

1 paper

NM_000038.6

p.H806_D807delFs

c.2418_2419delTG

2 papers

NM_000038.6

p.D807E

c.2421T>A

1 paper

NM_000038.6

p.D807E

c.2421T>G

1 paper

NM_000038.6

p.H806_D807ins7

c.2416_2420ins21

1 paper

NM_000038.6

p.D808N

c.2422G>A

1 paper

NM_000038.6

p.D808H

c.2422G>C

2 papers

NM_000038.6

p.D808fs

c.2422_2423fs

1 paper

NM_000038.6

p.D808Y

c.2422G>T