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

9 papers

NM_000038.6

p.S836*

c.2507C>A

Surrounding Variants

9 papers

NM_000038.6

p.S836*

c.2507C>G

1 paper

NM_000038.6

p.S836_S837delins

c.2507_2510delinsGATG

1 paper

NM_000038.6

p.S837insFs

c.2509dupT

1 paper

NM_000038.6

p.S836S

c.2508A>G

1 paper

NM_000038.6

p.S836P

c.2506T>C

1 paper

NM_000038.6

p.S836insFs

c.2507dupC

2 papers

NM_000038.6

p.S837fs

c.2509_2510fs

3 papers

NM_000038.6

p.S837delFs

c.2510delC

1 paper

NM_000038.6

p.S837fs

c.2509_2510fs

15 papers

NM_000038.6

p.S837*

c.2510C>A

15 papers

NM_000038.6

p.S837*

c.2510C>G

2 papers

NM_000038.6

p.S837L

c.2510C>T