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.E1683D

c.5049A>T

Surrounding Variants

1 paper

NM_000038.6

p.E1683D

c.5049A>C

1 paper

NM_000038.6

p.E1683G

c.5048A>G

1 paper

NM_000038.6

p.F1684L

c.5050T>C

2 papers

NM_000038.6

p.E1683*

c.5047G>T

1 paper

NM_000038.6

p.F1684S

c.5051T>C

1 paper

NM_000038.6

p.F1684L

c.5052T>A

1 paper

NM_000038.6

p.F1684L

c.5052T>G

2 papers

NM_000038.6

p.E1685K

c.5053G>A

1 paper

NM_000038.6

p.G1682D

c.5045G>A

2 papers

NM_000038.6

p.E1685_K1686insCC

c.5053_5057ins6

1 paper

NM_000038.6

p.E1685insFs

c.5054_5055insT

2 papers

NM_000038.6

p.E1685G

c.5054A>G