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.S299_R302delFs

c.897_904del8

Surrounding Variants

1 paper

NM_000038.6

p.H298R

c.893A>G

3 papers

NM_000038.6

p.H298L

c.893A>T

6 papers

NM_000038.6

p.S299delFs

c.896_897delCT

2 papers

NM_000038.6

p.H298fs

c.892_893fs

3 papers

NM_000038.6

p.H298Y

c.892C>T

4 papers

NM_000038.6

p.H298fs

c.892_893fs

1 paper

NM_000038.6

p.H298_S299del2

c.892_896del6

1 paper

NM_000038.6

p.S299T

c.895T>A

2 papers

NM_000038.6

p.S299fs

c.895_896fs

4 papers

NM_000038.6

p.S299fs

c.895_896fs

3 papers

NM_000038.6

p.T297insFs

c.890_891insA

1 paper

NM_000038.6

p.S299insFs

c.896_897insG