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.N933_Y935delFs

c.2798_2804del7

Surrounding Variants

3 papers

NM_000038.6

p.N933fs

c.2797_2798fs

10 papers

NM_000038.6

p.S932*

c.2795C>A

11 papers

NM_000038.6

p.S932*

c.2795C>G

2 papers

NM_000038.6

p.S932L

c.2795C>T

1 paper

NM_000038.6

p.N933delFs

c.2798delA

3 papers

NM_000038.6

p.S932fs

c.2794_2795fs

1 paper

NM_000038.6

p.N933N

c.2799C>T

16 papers

NM_000038.6

p.T934_Y935delFs

c.2800_2803del4

1 paper

NM_000038.6

p.H931H

c.2793T>C

4 papers

NM_000038.6

p.T934fs

c.2800_2801fs

2 papers

NM_000038.6

p.T934A

c.2800A>G

1 paper

NM_000038.6

p.H931R

c.2792A>G