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.L75I

c.223C>A

Surrounding Variants

2 papers

NM_000038.6

p.L75insFs

c.225dupT

1 paper

NM_000038.6

p.L75V

c.223C>G

3 papers

NM_000038.6

p.L75F

c.223C>T

1 paper

NM_000038.6

p.E74E

c.222G>A

1 paper

NM_000038.6

p.E74D

c.222G>C

1 paper

NM_000038.6

p.L75H

c.224T>A

6 papers

NM_000038.6

p.L75P

c.224T>C

1 paper

NM_000038.6

p.E74A

c.221A>C

1 paper

NM_000038.6

p.E74G

c.221A>G

1 paper

NM_000038.6

p.L75L

c.225T>C

2 papers

NM_000038.6

p.N76H

c.226A>C

1 paper

NM_000038.6

p.N76D

c.226A>G