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.L51insFs

c.152_153insT

Surrounding Variants

1 paper

NM_000038.6

p.L51V

c.151C>G

1 paper

NM_000038.6

p.L51L

c.151C>T

1 paper

NM_000038.6

p.L51Q

c.152T>A

1 paper

NM_000038.6

p.L51_Q52insFs

c.153_154insC

1 paper

NM_000038.6

p.Q50P

c.149A>C

2 papers

NM_000038.6

p.Q50R

c.149A>G

1 paper

NM_000038.6

p.L51L

c.153A>G

1 paper

NM_000038.6

p.Q52K

c.154C>A

1 paper

NM_000038.6

p.Q50E

c.148C>G

7 papers

NM_000038.6

p.Q50*

c.148C>T

6 papers

NM_000038.6

p.Q52*

c.154C>T

2 papers

NM_000038.6

p.Q52delFs

c.156delA