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.Q1242H

c.3726G>C

Surrounding Variants

2 papers

NM_000038.6

p.Q1242H

c.3726G>T

9 papers

NM_000038.6

p.Q1242*

c.3724C>T

1 paper

NM_000038.6

p.P1243L

c.3728C>T

1 paper

NM_000038.6

p.Q1242fs

c.3724_3725fs

1 paper

NM_000038.6

p.P1243P

c.3729T>A

1 paper

NM_000038.6

p.Q1244_K1245delFs

c.3730_3733del4

1 paper

NM_000038.6

p.K1245insFs

c.3734dupA

8 papers

NM_000038.6

p.Q1244*

c.3730C>T

3 papers

NM_000038.6

p.K1245delFs

c.3734delA

1 paper

NM_000038.6

p.K1245delFs

c.3733_3734delAA

1 paper

NM_000038.6

p.Q1244fs

c.3730_3731fs

1 paper

NM_000038.6

p.G1241D

c.3722G>A