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.L2643R

c.7928T>G

Surrounding Variants

1 paper

NM_000038.6

p.L2643L

c.7929A>G

3 papers

NM_000038.6

p.I2644_Y2645delFs

c.7932_7935del4

1 paper

NM_000038.6

p.I2644fs

c.7930_7931fs

1 paper

NM_000038.6

p.I2644delFs

c.7931delT

1 paper

NM_000038.6

p.I2644fs

c.7930_7931fs

1 paper

NM_000038.6

p.T2642I

c.7925C>T

2 papers

NM_000038.6

p.T2642_L2643delFs

c.7926_7929del4

1 paper

NM_000038.6

p.T2642P

c.7924A>C

1 paper

NM_000038.6

p.K2641N

c.7923G>C

1 paper

NM_000038.6

p.K2641N

c.7923G>T

1 paper

NM_000038.6

p.Y2645fs

c.7933_7934fs

3 papers

NM_000038.6

p.Y2645fs

c.7933_7934fs