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.H1329R

c.3986A>G

Surrounding Variants

1 paper

NM_000038.6

p.P1330insFs

c.3989dupC

1 paper

NM_000038.6

p.H1329delins

c.3986_3987delinsGT

1 paper

NM_000038.6

p.P1330delFs

c.3988_3989delCC

1 paper

NM_000038.6

p.H1329N

c.3985C>A

1 paper

NM_000038.6

p.H1329Q

c.3987C>A

2 papers

NM_000038.6

p.H1329_P1330insFs

c.3987_3988ins4

1 paper

NM_000038.6

p.H1329Q

c.3987C>G

2 papers

NM_000038.6

p.H1329H

c.3987C>T

1 paper

NM_000038.6

p.H1329Y

c.3985C>T

1 paper

NM_000038.6

p.H1329delFs

c.3986delA

1 paper

NM_000038.6

p.H1329fs

c.3985_3986fs

1 paper

NM_000038.6

p.Q1328H

c.3984G>C