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.E1550_K1551delFs

c.4650_4651delGA

Surrounding Variants

2 papers

NM_000038.6

p.Q1549R

c.4646A>G

1 paper

NM_000038.6

p.Q1549L

c.4646A>T

1 paper

NM_000038.6

p.Q1549K

c.4645C>A

11 papers

NM_000038.6

p.Q1549*

c.4645C>T

1 paper

NM_000038.6

p.Q1549delFs

c.4646_4647delAA

1 paper

NM_000038.6

p.E1550K

c.4648G>A

1 paper

NM_000038.6

p.E1550Q

c.4648G>C

1 paper

NM_000038.6

p.E1550fs

c.4648_4649fs

7 papers

NM_000038.6

p.E1550*

c.4648G>T

4 papers

NM_000038.6

p.K1551_E1552delFs

c.4652_4655del4

1 paper

NM_000038.6

p.E1550delFs

c.4650delG

2 papers

NM_000038.6

p.N1548fs

c.4642_4643fs