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.Y1376insFs

c.4127_4128insG

Surrounding Variants

1 paper

NM_000038.6

p.V1377insFs

c.4130_4131insGT

1 paper

NM_000038.6

p.Y1376C

c.4127A>G

2 papers

NM_000038.6

p.Y1376delFs

c.4128delT

3 papers

NM_000038.6

p.V1377delFs

c.4129_4130delGT

23 papers

NM_000038.6

p.Y1376*

c.4128T>A

1 paper

NM_000038.6

p.Y1376N

c.4126T>A

22 papers

NM_000038.6

p.Y1376*

c.4128T>G

1 paper

NM_000038.6

p.Y1376insFs

c.4126_4127insC

14 papers

NM_000038.6

p.Y1376fs

c.4126_4127fs

7 papers

NM_000038.6

p.Y1376fs

c.4126_4127fs

4 papers

NM_000038.6

p.Y1376insFs

c.4126_4127insT

1 paper

NM_000038.6

p.H1375Q

c.4125C>G