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.W2612R

c.7834T>A

Surrounding Variants

1 paper

NM_000038.6

p.W2612R

c.7834T>C

3 papers

NM_000038.6

p.W2612*

c.7835G>A

1 paper

NM_000038.6

p.T2611Fs

c.7832delinsCAFs

3 papers

NM_000038.6

p.T2611I

c.7832C>T

3 papers

NM_000038.6

p.W2612*

c.7836G>A

1 paper

NM_000038.6

p.R2613G

c.7837A>G

1 paper

NM_000038.6

p.R2613I

c.7838G>T

1 paper

NM_000038.6

p.K2614E

c.7840A>G

1 paper

NM_000038.6

p.G2610R

c.7828G>A

1 paper

NM_000038.6

p.G2610R

c.7828G>C

1 paper

NM_000038.6

p.I2615V

c.7843A>G

1 paper

NM_000038.6

p.I2615K

c.7844T>A