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

2 papers

NM_000038.6

p.D1994V

c.5981A>T

Surrounding Variants

1 paper

NM_000038.6

p.D1994_S1995insT

c.5980_5984ins3

2 papers

NM_000038.6

p.P1993fs

c.5977_5978fs

1 paper

NM_000038.6

p.P1993_D1994del2

c.5977_5981del6

1 paper

NM_000038.6

p.P1992S

c.5974C>T

1 paper

NM_000038.6

p.Q1996Q

c.5988G>A

1 paper

NM_000038.6

p.E1991D

c.5973G>C

1 paper

NM_000038.6

p.P1992insFs

c.5974dupC

1 paper

NM_000038.6

p.E1991D

c.5973G>T

1 paper

NM_000038.6

p.P1993delFs

c.5978delC

3 papers

NM_000038.6

p.G1997E

c.5990G>A

1 paper

NM_000038.6

p.E1991fs

c.5971_5972fs

1 paper

NM_000038.6

p.E1998K

c.5992G>A