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.S1757S

c.5271T>C

Surrounding Variants

1 paper

NM_000038.6

p.S1757F

c.5270C>T

1 paper

NM_000038.6

p.S1758F

c.5273C>T

1 paper

NM_000038.6

p.S1757_S1758insC

c.5269_5273ins3

1 paper

NM_000038.6

p.S1758S

c.5274T>A

39 papers

NM_000038.6

p.S1756S

c.5268T>G

2 papers

NM_000038.6

p.S1756F

c.5267C>T

3 papers

NM_000038.6

p.A1759V

c.5276C>T

4 papers

NM_000038.6

p.A1755A

c.5265G>A

1 paper

NM_000038.6

p.A1755_S1756delins

c.5265_5268delinsATCG

2 papers

NM_000038.6

p.S1758del1

c.5272_5274delTCT

6 papers

NM_000038.6

p.A1755V

c.5264C>T

1 paper

NM_000038.6

p.P1760S

c.5278C>T