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

5 papers

NM_000038.6

p.R216Q

c.647G>A

Surrounding Variants

1 paper

NM_000038.6

p.R216R

c.648A>T

1 paper

NM_000038.6

p.R216insFs

c.646_647ins4

1 paper

NM_000038.6

p.R216G

c.646C>G

161 papers

NM_000038.6

p.R216*

c.646C>T

1 paper

NM_000038.6

p.R216fs

c.646_647fs

1 paper

NM_000038.6

p.R217G

c.649A>G

7 papers

NM_000038.6

p.Q215_R216Splc

c.646-1G>A

1 paper

NM_000038.6

p.Q215_R216Splc

c.646-1G>C

2 papers

NM_000038.6

p.Q215_R216Splc

c.646-1G>T

1 paper

NM_000038.6

p.R216_A219del4

c.646_656del12

3 papers

NM_000038.6

p.Q215_R216Splc

c.646-2A>C

1 paper

NM_000038.6

p.R217K

c.650G>A