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.Y1135C

c.3404A>G

Surrounding Variants

4 papers

NM_000038.6

p.Y1135*

c.3405T>A

1 paper

NM_000038.6

p.Y1135H

c.3403T>C

4 papers

NM_000038.6

p.Y1135*

c.3405T>G

2 papers

NM_000038.6

p.E1136_D1137del1

c.3407_3409delAAG

1 paper

NM_000038.6

p.Y1135insFs

c.3403dupT

2 papers

NM_000038.6

p.Y1135delFs

c.3404_3405delAT

2 papers

NM_000038.6

p.E1136K

c.3406G>A

4 papers

NM_000038.6

p.E1136*

c.3406G>T

1 paper

NM_000038.6

p.E1136delFs

c.3408delA

2 papers

NM_000038.6

p.D1134G

c.3401A>G

1 paper

NM_000038.6

p.D1134N

c.3400G>A

1 paper

NM_000038.6

p.D1134H

c.3400G>C