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.G2264C

c.6790G>T

Surrounding Variants

1 paper

NM_000038.6

p.G2264R

c.6790G>C

2 papers

NM_000038.6

p.G2264D

c.6791G>A

1 paper

NM_000038.6

p.E2263G

c.6788A>G

1 paper

NM_000038.6

p.Q2265_T2266insCC

c.6793_6797ins6

1 paper

NM_000038.6

p.E2263K

c.6787G>A

1 paper

NM_000038.6

p.E2263_G2264insFs

c.6789_6790insAA

1 paper

NM_000038.6

p.S2262N

c.6785G>A

1 paper

NM_000038.6

p.S2262G

c.6784A>G

1 paper

NM_000038.6

p.T2266I

c.6797C>T

1 paper

NM_000038.6

p.P2261R

c.6782C>G

4 papers

NM_000038.6

p.P2261L

c.6782C>T

1 paper

NM_000038.6

p.P2261S

c.6781C>T