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.E855K

c.2563G>A

Surrounding Variants

1 paper

NM_000038.6

p.E855fs

c.2563_2564fs

3 papers

NM_000038.6

p.E855*

c.2563G>T

1 paper

NM_000038.6

p.R856_I858delFs

c.2566_2572del7

1 paper

NM_000038.6

p.R854K

c.2561G>A

1 paper

NM_000038.6

p.R854fs

c.2560_2561fs

2 papers

NM_000038.6

p.R854*

c.2560A>T

1 paper

NM_000038.6

p.R854fs

c.2560_2561fs

1 paper

NM_000038.6

p.R856fs

c.2566_2567fs

8 papers

NM_000038.6

p.R856C

c.2566C>T

1 paper

NM_000038.6

p.R856fs

c.2566_2567fs

3 papers

NM_000038.6

p.R856H

c.2567G>A

1 paper

NM_000038.6

p.R856R

c.2568C>T