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.Q2040H

c.6120G>C

Surrounding Variants

1 paper

NM_000038.6

p.Q2040H

c.6120G>T

1 paper

NM_000038.6

p.E2041Q

c.6121G>C

1 paper

NM_000038.6

p.E2041*

c.6121G>T

2 papers

NM_000038.6

p.Q2040*

c.6118C>T

1 paper

NM_000038.6

p.E2041_C2042insFs

c.6123_6124ins5

1 paper

NM_000038.6

p.L2039L

c.6117G>A

6 papers

NM_000038.6

p.L2039F

c.6117G>C

7 papers

NM_000038.6

p.L2039F

c.6117G>T

1 paper

NM_000038.6

p.C2042R

c.6124T>C

3 papers

NM_000038.6

p.I2043V

c.6127A>G

1 paper

NM_000038.6

p.L2038P

c.6113T>C

6 papers

NM_000038.6

p.L2038V

c.6112C>G