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.G998D

c.2993G>A

Surrounding Variants

2 papers

NM_000038.6

p.G998V

c.2993G>T

1 paper

NM_000038.6

p.G998S

c.2992G>A

1 paper

NM_000038.6

p.G998fs

c.2992_2993fs

1 paper

NM_000038.6

p.G998_Q999del1

c.2993_2995delGTC

1 paper

NM_000038.6

p.G998_Q999insFs

c.2994_2995insA

1 paper

NM_000038.6

p.Q999E

c.2995C>G

9 papers

NM_000038.6

p.Q999*

c.2995C>T

1 paper

NM_000038.6

p.Q999fs

c.2995_2996fs

9 papers

NM_000038.6

p.Y997*

c.2991T>A

1 paper

NM_000038.6

p.Y997Y

c.2991T>C

10 papers

NM_000038.6

p.Y997*

c.2991T>G

1 paper

NM_000038.6

p.Y997_G998insFs

c.2991_2992insA