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.P870P

c.2610A>T

Surrounding Variants

3 papers

NM_000038.6

p.G871delFs

c.2612delG

2 papers

NM_000038.6

p.P870L

c.2609C>T

1 paper

NM_000038.6

p.G871fs

c.2611_2612fs

3 papers

NM_000038.6

p.G871*

c.2611G>T

1 paper

NM_000038.6

p.G871fs

c.2611_2612fs

1 paper

NM_000038.6

p.P870fs

c.2608_2609fs

29 papers

NM_000038.6

p.P870S

c.2608C>T

1 paper

NM_000038.6

p.G871E

c.2612G>A

1 paper

NM_000038.6

p.G871G

c.2613A>T

1 paper

NM_000038.6

p.T872_S873delFs

c.2614_2617del4

1 paper

NM_000038.6

p.P870insFs

c.2609dupC

1 paper

NM_000038.6

p.P870delFs

c.2609delC