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.S1419R

c.4257C>A

Surrounding Variants

1 paper

NM_000038.6

p.S1419R

c.4257C>G

3 papers

NM_000038.6

p.P1420fs

c.4258_4259fs

1 paper

NM_000038.6

p.P1420fs

c.4258_4259fs

1 paper

NM_000038.6

p.P1420_L1423delFs

c.4259_4269del11

1 paper

NM_000038.6

p.P1420_P1424delFs

c.4259_4272del14

2 papers

NM_000038.6

p.S1419N

c.4256G>A

1 paper

NM_000038.6

p.S1419Fs

c.4256delinsCCFs

2 papers

NM_000038.6

p.P1420delFs

c.4260delC

1 paper

NM_000038.6

p.P1420delFs

c.4259_4260delCC

1 paper

NM_000038.6

p.S1419R

c.4255A>C

6 papers

NM_000038.6

p.P1420L

c.4259C>T

2 papers

NM_000038.6

p.P1420_S1421delFs

c.4260_4261delCA