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

6 papers

NM_000038.6

p.L143fs

c.427_428fs

Surrounding Variants

1 paper

NM_000038.6

p.L143insFs

c.427_428insA

3 papers

NM_000038.6

p.L143fs

c.427_428fs

1 paper

NM_000038.6

p.L143delFs

c.428_429delTG

1 paper

NM_000038.6

p.L143_E154del0

c.428_460del33

1 paper

NM_000038.6

p.L143insFs

c.428dupT

1 paper

NM_000038.6

p.L143_E152delFs

c.427_454del28

1 paper

NM_000038.6

p.L143*

c.428T>A

1 paper

NM_000038.6

p.L143W

c.428T>G

2 papers

NM_000038.6

p.S142*

c.425C>A

2 papers

NM_000038.6

p.S142*

c.425C>G

3 papers

NM_000038.6

p.S142L

c.425C>T

16 papers

NM_000038.6

p.S142_L143delFs

c.426_427delAT