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.S1356L

c.4067C>T

Surrounding Variants

42 papers

NM_000038.6

p.S1356*

c.4067C>A

1 paper

NM_000038.6

p.S1356_G1357insFs

c.4068_4071dup4

40 papers

NM_000038.6

p.S1356*

c.4067C>G

1 paper

NM_000038.6

p.S1356delFs

c.4068delA

1 paper

NM_000038.6

p.S1356P

c.4066T>C

2 papers

NM_000038.6

p.S1356fs

c.4066_4067fs

1 paper

NM_000038.6

p.S1356_G1357ins4

c.4066_4070ins12

1 paper

NM_000038.6

p.S1356delFs

c.4067delC

4 papers

NM_000038.6

p.G1357R

c.4069G>A

3 papers

NM_000038.6

p.G1357R

c.4069G>C

3 papers

NM_000038.6

p.G1357fs

c.4069_4070fs

8 papers

NM_000038.6

p.G1357*

c.4069G>T