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.Q1256K

c.3766C>A

Surrounding Variants

8 papers

NM_000038.6

p.Q1256insFs

c.3768dupA

8 papers

NM_000038.6

p.Q1256*

c.3766C>T

1 paper

NM_000038.6

p.Q1256fs

c.3766_3767fs

1 paper

NM_000038.6

p.Q1256Q

c.3768A>G

1 paper

NM_000038.6

p.N1255H

c.3763A>C

1 paper

NM_000038.6

p.E1257K

c.3769G>A

2 papers

NM_000038.6

p.E1257fs

c.3769_3770fs

6 papers

NM_000038.6

p.E1257*

c.3769G>T

1 paper

NM_000038.6

p.E1257fs

c.3769_3770fs

1 paper

NM_000038.6

p.E1257_I1259delFs

c.3771_3775del5

1 paper

NM_000038.6

p.N1255insFs

c.3764_3765insA

1 paper

NM_000038.6

p.E1257E

c.3771A>G