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.A160_Q161delFs

c.480_483del4

Surrounding Variants

1 paper

NM_000038.6

p.A160G

c.479C>G

1 paper

NM_000038.6

p.A160V

c.479C>T

2 papers

NM_000038.6

p.A160T

c.478G>A

1 paper

NM_000038.6

p.A160S

c.478G>T

1 paper

NM_000038.6

p.A160A

c.480T>A

7 papers

NM_000038.6

p.Y159*

c.477C>A

11 papers

NM_000038.6

p.Y159*

c.477C>G

2 papers

NM_000038.6

p.Q161E

c.481C>G

15 papers

NM_000038.6

p.Q161*

c.481C>T

1 paper

NM_000038.6

p.Y159Y

c.477C>T

1 paper

NM_000038.6

p.Q161P

c.482A>C

1 paper

NM_000038.6

p.Y159C

c.476A>G