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.L68F

c.204A>C

Surrounding Variants

1 paper

NM_000038.6

p.L68F

c.204A>T

1 paper

NM_000038.6

p.L68*

c.203T>A

1 paper

NM_000038.6

p.L68S

c.203T>C

1 paper

NM_000038.6

p.L68*

c.203T>G

3 papers

NM_000038.6

p.L69*

c.206T>A

1 paper

NM_000038.6

p.L68I

c.202T>A

2 papers

NM_000038.6

p.L69S

c.206T>C

2 papers

NM_000038.6

p.L69*

c.206T>G

1 paper

NM_000038.6

p.L68V

c.202T>G

1 paper

NM_000038.6

p.L68fs

c.202_203fs

1 paper

NM_000038.6

p.L68fs

c.202_203fs

1 paper

NM_000038.6

p.L69_E70insFs

c.207_208insT