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.A1907fs

c.5719_5720fs

Surrounding Variants

2 papers

NM_000038.6

p.A1907T

c.5719G>A

1 paper

NM_000038.6

p.A1907S

c.5719G>T

1 paper

NM_000038.6

p.A1907fs

c.5719_5720fs

1 paper

NM_000038.6

p.A1907D

c.5720C>A

1 paper

NM_000038.6

p.S1906delFs

c.5718delA

2 papers

NM_000038.6

p.N1908fs

c.5722_5723fs

1 paper

NM_000038.6

p.N1908D

c.5722A>G

2 papers

NM_000038.6

p.N1908Y

c.5722A>T

1 paper

NM_000038.6

p.S1906_A1907insGT

c.5716_5720ins6

1 paper

NM_000038.6

p.Q1904insFs

c.5712dupA

2 papers

NM_000038.6

p.Q1904*

c.5710C>T

1 paper

NM_000038.6

p.T1910I

c.5729C>T