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.T2451N

c.7352C>A

Surrounding Variants

1 paper

NM_000038.6

p.T2451I

c.7352C>T

1 paper

NM_000038.6

p.P2450L

c.7349C>T

1 paper

NM_000038.6

p.L2452*

c.7355T>A

1 paper

NM_000038.6

p.L2452*

c.7355T>G

1 paper

NM_000038.6

p.L2452delFs

c.7356delA

1 paper

NM_000038.6

p.R2453G

c.7357A>G

2 papers

NM_000038.6

p.R2453K

c.7358G>A

1 paper

NM_000038.6

p.P2448Q

c.7343C>A

1 paper

NM_000038.6

p.P2448L

c.7343C>T

1 paper

NM_000038.6

p.R2454K

c.7361G>A

1 paper

NM_000038.6

p.R2454T

c.7361G>C

1 paper

NM_000038.6

p.P2448S

c.7342C>T