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

3 papers

NM_000038.6

p.I1307insFs

c.3919_3920insA

Surrounding Variants

9 papers

NM_000038.6

p.E1306K

c.3916G>A

1 paper

NM_000038.6

p.E1306ins2

c.3916_3917ins6

6 papers

NM_000038.6

p.E1306fs

c.3916_3917fs

64 papers

NM_000038.6

p.E1306*

c.3916G>T

13 papers

NM_000038.6

p.E1306delFs

c.3917delA

2 papers

NM_000038.6

p.I1307_K1308delFs

c.3920_3923del4

6 papers

NM_000038.6

p.I1307_K1308delFs

c.3920_3924del5

1 paper

NM_000038.6

p.I1307_K1308del2

c.3919_3923del6

1 paper

NM_000038.6

p.E1306_E1309delFs

c.3917_3927del11

1 paper

NM_000038.6

p.E1306G

c.3917A>G

1 paper

NM_000038.6

p.E1306_I1307delFs

c.3916_3920del5

5 papers

NM_000038.6

p.I1307delFs

c.3920_3921delTA