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

9 papers

NM_000038.6

p.W157*

c.470G>A

Surrounding Variants

2 papers

NM_000038.6

p.W157L

c.470G>T

10 papers

NM_000038.6

p.W157*

c.471G>A

1 paper

NM_000038.6

p.W157C

c.471G>C

2 papers

NM_000038.6

p.Y158insFs

c.472_473insT

1 paper

NM_000038.6

p.Y158_Y159ins0

c.472_477dup6

1 paper

NM_000038.6

p.W157C

c.471G>T

2 papers

NM_000038.6

p.D156E

c.468C>A

3 papers

NM_000038.6

p.W157insFs

c.469dupT

2 papers

NM_000038.6

p.D156E

c.468C>G

1 paper

NM_000038.6

p.D156D

c.468C>T

1 paper

NM_000038.6

p.W157delFs

c.469delT

1 paper

NM_000038.6

p.Y158H

c.472T>C