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.P173delFs

c.519delT

Surrounding Variants

3 papers

NM_000038.6

p.P173L

c.518C>T

1 paper

NM_000038.6

p.P173T

c.517C>A

1 paper

NM_000038.6

p.P173fs

c.517_518fs

5 papers

NM_000038.6

p.P173S

c.517C>T

1 paper

NM_000038.6

p.L172L

c.516T>C

1 paper

NM_000038.6

p.L174L

c.520T>C

1 paper

NM_000038.6

p.P173delFs

c.518delC

1 paper

NM_000038.6

p.L174*

c.521T>A

1 paper

NM_000038.6

p.L172P

c.515T>C

1 paper

NM_000038.6

p.L174*

c.521T>G

1 paper

NM_000038.6

p.L174delFs

c.522delA

1 paper

NM_000038.6

p.L172insFs

c.514_515insCA