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

5 papers

NM_000038.6

p.I1307L

c.3919A>T

Surrounding Variants

37 papers

NM_000038.6

p.I1307fs

c.3919_3920fs

4 papers

NM_000038.6

p.I1307L

c.3919A>C

2 papers

NM_000038.6

p.I1307V

c.3919A>G

7 papers

NM_000038.6

p.I1307delFs

c.3920delT

6 papers

NM_000038.6

p.I1307fs

c.3919_3920fs

5 papers

NM_000038.6

p.I1307delFs

c.3920_3921delTA

630 papers

NM_000038.6

p.I1307K

c.3920T>A

16 papers

NM_000038.6

p.K1308insFs

c.3924dupA

6 papers

NM_000038.6

p.K1308delFs

c.3922delA

1 paper

NM_000038.6

p.K1308delFs

c.3922_3923delAA

1 paper

NM_000038.6

p.K1308del1

c.3922_3923delAAA

5 papers

NM_000038.6

p.I1307_K1308delFs

c.3921_3924del4