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.E1899_L1900insFs

c.5697_5698insA

Surrounding Variants

1 paper

NM_000038.6

p.E1899*

c.5695G>T

1 paper

NM_000038.6

p.T1898I

c.5693C>T

3 papers

NM_000038.6

p.H1897P

c.5690A>C

1 paper

NM_000038.6

p.S1896R

c.5688C>A

1 paper

NM_000038.6

p.S1896R

c.5688C>G

2 papers

NM_000038.6

p.S1896N

c.5687G>A

1 paper

NM_000038.6

p.S1896R

c.5686A>C

1 paper

NM_000038.6

p.S1902A

c.5704T>G

5 papers

NM_000038.6

p.S1902F

c.5705C>T

1 paper

NM_000038.6

p.T1895N

c.5684C>A

1 paper

NM_000038.6

p.T1895I

c.5684C>T

1 paper

NM_000038.6

p.N1903I

c.5708A>T