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.T2626A

c.7876A>G

Surrounding Variants

1 paper

NM_000038.6

p.S2627_S2632delFs

c.7879_7894del16

1 paper

NM_000038.6

p.T2626N

c.7877C>A

2 papers

NM_000038.6

p.T2626I

c.7877C>T

1 paper

NM_000038.6

p.S2625I

c.7874G>T

1 paper

NM_000038.6

p.S2627A

c.7879T>G

2 papers

NM_000038.6

p.S2627fs

c.7879_7880fs

1 paper

NM_000038.6

p.S2627Y

c.7880C>A

1 paper

NM_000038.6

p.S2627C

c.7880C>G

1 paper

NM_000038.6

p.S2627F

c.7880C>T

1 paper

NM_000038.6

p.N2624D

c.7870A>G

1 paper

NM_000038.6

p.Q2628*

c.7882C>T

1 paper

NM_000038.6

p.Q2628R

c.7883A>G