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

9 papers

NM_000038.6

p.E1464fs

c.4390_4391fs

Surrounding Variants

3 papers

NM_000038.6

p.E1464K

c.4390G>A

27 papers

NM_000038.6

p.E1464fs

c.4390_4391fs

9 papers

NM_000038.6

p.E1464*

c.4390G>T

3 papers

NM_000038.6

p.R1463S

c.4389A>C

1 paper

NM_000038.6

p.E1464G

c.4391A>G

3 papers

NM_000038.6

p.R1463S

c.4389A>T

1 paper

NM_000038.6

p.E1464V

c.4391A>T

1 paper

NM_000038.6

p.R1463K

c.4388G>A

2 papers

NM_000038.6

p.E1464D

c.4392G>C

2 papers

NM_000038.6

p.E1464D

c.4392G>T

2 papers

NM_000038.6

p.S1465delFs

c.4393delA

1 paper

NM_000038.6

p.S1465insFs

c.4393_4394insAG