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.I1849_E1850del1

c.5547_5549delTGA

Surrounding Variants

1 paper

NM_000038.6

p.I1849T

c.5546T>C

1 paper

NM_000038.6

p.E1850K

c.5548G>A

1 paper

NM_000038.6

p.E1850G

c.5549A>G

1 paper

NM_000038.6

p.P1848S

c.5542C>T

2 papers

NM_000038.6

p.G1851R

c.5551G>A

1 paper

NM_000038.6

p.T1847T

c.5541G>A

2 papers

NM_000038.6

p.G1851R

c.5551G>C

4 papers

NM_000038.6

p.T1847M

c.5540C>T

1 paper

NM_000038.6

p.T1852_P1853insTA

c.5554_5558ins6

1 paper

NM_001127511.3

p.T1834_Y1836del0

c.5501_5506del6

1 paper

NM_000038.6

p.H1845H

c.5535T>C

1 paper

NM_000038.6

p.P1853L

c.5558C>T