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.S80T

c.239G>C

Surrounding Variants

3 papers

NM_000038.6

p.S80N

c.239G>A

1 paper

NM_000038.6

p.S80R

c.238A>C

3 papers

NM_000038.6

p.S80G

c.238A>G

2 papers

NM_000038.6

p.S80R

c.240T>A

1 paper

NM_000038.6

p.S80R

c.240T>G

1 paper

NM_000038.6

p.N81D

c.241A>G

1 paper

NM_000038.6

p.S79S

c.237C>T

2 papers

NM_000038.6

p.N81I

c.242A>T

1 paper

NM_000038.6

p.N81_P83del0

c.243_248del6

3 papers

NM_000038.6

p.S79N

c.236G>A

2 papers

NM_000038.6

p.S79insFs

c.235_236insCT

1 paper

NM_000038.6

p.S79fs

c.235_236fs