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

3 papers

NM_000038.6

p.R213P

c.638G>C

Surrounding Variants

8 papers

NM_000038.6

p.R213Q

c.638G>A

2 papers

NM_000038.6

p.R213L

c.638G>T

1 paper

NM_000038.6

p.R213R

c.639A>G

2 papers

NM_000038.6

p.R213R

c.637C>A

1 paper

NM_000038.6

p.R213fs

c.637_638fs

1 paper

NM_000038.6

p.R213_A214insT

c.637_641ins3

4 papers

NM_000038.6

p.R213G

c.637C>G

155 papers

NM_000038.6

p.R213*

c.637C>T

NM_001127511.3

p.R223*

c.667C>T

1 paper

NM_000038.6

p.R213_A214delFs

c.639_640delAG

2 papers

NM_000038.6

p.R213fs

c.637_638fs

1 paper

NM_000038.6

p.K212N

c.636A>T

3 papers

NM_000038.6

p.A214T

c.640G>A