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.Q341Q

c.1023A>G

Surrounding Variants

1 paper

NM_000038.6

p.Q341R

c.1022A>G

2 papers

NM_000038.6

p.D342N

c.1024G>A

1 paper

NM_000038.6

p.D342V

c.1025A>T

1 paper

NM_000038.6

p.Q341K

c.1021C>A

3 papers

NM_000038.6

p.Q341*

c.1021C>T

1 paper

NM_000038.6

p.Q341fs

c.1021_1022fs

1 paper

NM_000038.6

p.S343insFs

c.1027dupA

1 paper

NM_000038.6

p.Q341_R348del8

c.1021_1043del24

1 paper

NM_000038.6

p.S343fs

c.1027_1028fs

1 paper

NM_000038.6

p.S340Y

c.1019C>A

1 paper

NM_000038.6

p.S340F

c.1019C>T

1 paper

NM_000038.6

p.S343N

c.1028G>A