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.E1891Q

c.5671G>C

Surrounding Variants

1 paper

NM_000038.6

p.E1891*

c.5671G>T

1 paper

NM_000038.6

p.S1890*

c.5669C>A

1 paper

NM_000038.6

p.S1890*

c.5669C>G

1 paper

NM_000038.6

p.A1892T

c.5674G>A

2 papers

NM_000038.6

p.S1890_E1891insTA

c.5668_5672ins6

1 paper

NM_000038.6

p.A1892V

c.5675C>T

1 paper

NM_000038.6

p.K1893insFs

c.5677_5678insA

2 papers

NM_000038.6

p.K1893E

c.5677A>G

1 paper

NM_000038.6

p.E1889K

c.5665G>A

1 paper

NM_000038.6

p.E1889Q

c.5665G>C

1 paper

NM_000038.6

p.K1888E

c.5662A>G

1 paper

NM_000038.6

p.V1894I

c.5680G>A