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.D1722D

c.5166T>C

Surrounding Variants

1 paper

NM_000038.6

p.I1723delFs

c.5167delA

1 paper

NM_000038.6

p.D1722N

c.5164G>A

1 paper

NM_000038.6

p.I1723T

c.5168T>C

2 papers

NM_000038.6

p.L1724I

c.5170C>A

1 paper

NM_000038.6

p.L1724F

c.5170C>T

1 paper

NM_000038.6

p.G1721D

c.5162G>A

1 paper

NM_000038.6

p.G1721R

c.5161G>C

1 paper

NM_000038.6

p.G1721insFs

c.5161_5162insC

1 paper

NM_000038.6

p.G1721C

c.5161G>T

3 papers

NM_000038.6

p.E1720A

c.5159A>C

2 papers

NM_000038.6

p.E1720G

c.5159A>G

1 paper

NM_000038.6

p.A1725T

c.5173G>A