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.Y1642S

c.4925A>C

Surrounding Variants

1 paper

NM_000038.6

p.Y1642*

c.4926T>A

1 paper

NM_000038.6

p.Y1642*

c.4926T>G

1 paper

NM_000038.6

p.C1643Y

c.4928G>A

1 paper

NM_000038.6

p.V1641A

c.4922T>C

2 papers

NM_000038.6

p.V1641M

c.4921G>A

1 paper

NM_000038.6

p.C1643C

c.4929T>C

8 papers

NM_000038.6

p.R1640Q

c.4919G>A

1 paper

NM_000038.6

p.R1640L

c.4919G>T

2 papers

NM_000038.6

p.R1640fs

c.4918_4919fs

8 papers

NM_000038.6

p.R1640W

c.4918C>T

5 papers

NM_000038.6

p.E1645K

c.4933G>A

1 paper

NM_000038.6

p.E1645insFs

c.4933_4934insC