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.Q1916*

c.5746C>T

Surrounding Variants

1 paper

NM_000038.6

p.Q1916R

c.5747A>G

1 paper

NM_000038.6

p.Q1916L

c.5747A>T

1 paper

NM_000038.6

p.K1915E

c.5743A>G

1 paper

NM_000038.6

p.P1917_I1918insA

c.5749_5753ins3

1 paper

NM_000038.6

p.P1917S

c.5749C>T

1 paper

NM_000038.6

p.I1918delFs

c.5752delA

2 papers

NM_000038.6

p.A1914G

c.5741C>G

1 paper

NM_000038.6

p.I1918fs

c.5752_5753fs

1 paper

NM_000038.6

p.I1918V

c.5752A>G

1 paper

NM_000038.6

p.N1919_K1924delFs

c.5757_5772del16

2 papers

NM_000038.6

p.I1918M

c.5754A>G

1 paper

NM_000038.6

p.N1919delFs

c.5757delT