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

2 papers

NM_000038.6

p.R2301I

c.6902G>T

Surrounding Variants

3 papers

NM_000038.6

p.R2301K

c.6902G>A

1 paper

NM_000038.6

p.R2301S

c.6903A>T

3 papers

NM_000038.6

p.S2302*

c.6905C>A

4 papers

NM_000038.6

p.S2302*

c.6905C>G

3 papers

NM_000038.6

p.S2302L

c.6905C>T

1 paper

NM_000038.6

p.S2300F

c.6899C>T

1 paper

NM_000038.6

p.S2302S

c.6906A>C

1 paper

NM_000038.6

p.S2302_G2303delins

c.6906_6907delinsCT

4 papers

NM_000038.6

p.G2303*

c.6907G>T

1 paper

NM_000038.6

p.P2299L

c.6896C>T

1 paper

NM_000038.6

p.S2304Y

c.6911C>A

1 paper

NM_000038.6

p.A2298V

c.6893C>T