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

2 papers

NM_000038.6

p.Q1175K

c.3523C>A

Surrounding Variants

4 papers

NM_000038.6

p.Q1175*

c.3523C>T

1 paper

NM_000038.6

p.Q1175fs

c.3523_3524fs

1 paper

NM_000038.6

p.Q1175delFs

c.3525delG

2 papers

NM_000038.6

p.D1174_Q1175delFs

c.3522_3523delTC

2 papers

NM_000038.6

p.P1176_I1177insT

c.3526_3530ins3

2 papers

NM_000038.6

p.D1174N

c.3520G>A

1 paper

NM_000038.6

p.D1174Y

c.3520G>T

1 paper

NM_001127511.3

p.D1156_Q1157del1

c.3468_3470delTCA

1 paper

NM_000038.6

p.P1176H

c.3527C>A

2 papers

NM_000038.6

p.P1176L

c.3527C>T

1 paper

NM_000038.6

p.V1173G

c.3518T>G

1 paper

NM_000038.6

p.D1174_Q1175del2

c.3520_3524del6