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.L93I

c.277C>A

Surrounding Variants

1 paper

NM_000038.6

p.L93insFs

c.277_278ins10

2 papers

NM_000038.6

p.L93fs

c.277_278fs

3 papers

NM_000038.6

p.L93V

c.277C>G

4 papers

NM_000038.6

p.L93F

c.277C>T

1 paper

NM_000038.6

p.S92S

c.276C>G

1 paper

NM_000038.6

p.S92S

c.276C>T

1 paper

NM_000038.6

p.L93H

c.278T>A

1 paper

NM_000038.6

p.L93P

c.278T>C

4 papers

NM_000038.6

p.S92C

c.275C>G

2 papers

NM_000038.6

p.S92F

c.275C>T

1 paper

NM_000038.6

p.L93L

c.279C>T

3 papers

NM_000038.6

p.R94delFs

c.280_281delCG