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.G2677D

c.8030G>A

Surrounding Variants

1 paper

NM_000038.6

p.G2677S

c.8029G>A

1 paper

NM_000038.6

p.G2677R

c.8029G>C

1 paper

NM_000038.6

p.T2676ins2

c.8026_8027ins6

1 paper

NM_000038.6

p.T2679N

c.8036C>A

1 paper

NM_000038.6

p.P2675S

c.8023C>T

1 paper

NM_000038.6

p.P2680delFs

c.8038delC

1 paper

NM_000038.6

p.P2680T

c.8038C>A

1 paper

NM_000038.6

p.P2680fs

c.8038_8039fs

1 paper

NM_000038.6

p.P2680A

c.8038C>G

1 paper

NM_000038.6

p.P2680S

c.8038C>T

2 papers

NM_000038.6

p.S2674F

c.8021C>T

1 paper

NM_000038.6

p.P2680L

c.8039C>T