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.Q222H

c.666G>T

Surrounding Variants

1 paper

NM_000038.6

p.Q222Q

c.666G>A

1 paper

NM_000038.6

p.Q222R

c.665A>G

1 paper

NM_000038.6

p.Q223K

c.667C>A

16 papers

NM_000038.6

p.Q223*

c.667C>T

2 papers

NM_000038.6

p.Q223fs

c.667_668fs

1 paper

NM_000038.6

p.Q223R

c.668A>G

1 paper

NM_000038.6

p.Q222K

c.664C>A

1 paper

NM_000038.6

p.Q222E

c.664C>G

2 papers

NM_000038.6

p.Q222*

c.664C>T

3 papers

NM_000038.6

p.Q223H

c.669A>C

3 papers

NM_000038.6

p.Q223H

c.669A>T

1 paper

NM_000038.6

p.Q222delFs

c.664_665delCA