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

1 paper

NM_000038.6

p.S293R

c.877A>C

Surrounding Variants

1 paper

NM_000038.6

p.S293delFs

c.878delG

2 papers

NM_000038.6

p.S293N

c.878G>A

10 papers

NM_001127511.3

p.L274F

c.822G>C

NM_000038.6

p.L292F

c.876G>C

1 paper

NM_000038.6

p.S293_S294ins2

c.879_880ins6

10 papers

NM_001127511.3

p.L274F

c.822G>T

NM_000038.6

p.L292F

c.876G>T

1 paper

NM_000038.6

p.S293I

c.878G>T

2 papers

NM_000038.6

p.S293delFs

c.877delA

1 paper

NM_000038.6

p.S294delFs

c.880delT

4 papers

NM_000038.6

p.L292*

c.875T>A

1 paper

NM_000038.6

p.S293S

c.879T>C

1 paper

NM_000038.6

p.L292M

c.874T>A

1 paper

NM_000038.6

p.S294P

c.880T>C