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.S2473Y

c.7418C>A

Surrounding Variants

1 paper

NM_000038.6

p.S2473F

c.7418C>T

1 paper

NM_000038.6

p.P2474insFs

c.7420_7421insA

1 paper

NM_000038.6

p.P2474S

c.7420C>T

1 paper

NM_000038.6

p.A2472D

c.7415C>A

2 papers

NM_000038.6

p.A2472V

c.7415C>T

2 papers

NM_000038.6

p.P2474L

c.7421C>T

1 paper

NM_000038.6

p.A2472T

c.7414G>A

1 paper

NM_000038.6

p.A2472_S2473del2

c.7414_7418del6

1 paper

NM_000038.6

p.P2471L

c.7412C>T

1 paper

NM_000038.6

p.P2471S

c.7411C>T

2 papers

NM_000038.6

p.R2470K

c.7409G>A

1 paper

NM_000038.6

p.R2470T

c.7409G>C