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.S546_V547delFs

c.1636_1639del4

Surrounding Variants

3 papers

NM_000038.6

p.A545V

c.1634C>T

1 paper

NM_000038.6

p.A545delins

c.1634_1635delinsTA

38 papers

NM_000038.6

p.A545A

c.1635G>A

15 papers

NM_000038.6

p.A545T

c.1633G>A

1 paper

NM_000038.6

p.A545P

c.1633G>C

1 paper

NM_000038.6

p.A545delFs

c.1634delC

1 paper

NM_000038.6

p.S546R

c.1636A>C

1 paper

NM_000038.6

p.S546N

c.1637G>A

1 paper

NM_000038.6

p.S546delFs

c.1638delT

8 papers

NM_000038.6

p.I544T

c.1631T>C

1 paper

NM_000038.6

p.I544_A545insFs

c.1632_1633insAT

1 paper

NM_000038.6

p.I544fs

c.1630_1631fs