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.L1509_L1511insFs

c.4526_4533dup8

Surrounding Variants

7 papers

NM_000038.6

p.A1508V

c.4523C>T

3 papers

NM_000038.6

p.S1507N

c.4520G>A

1 paper

NM_000038.6

p.S1507insFs

c.4520_4521ins8

1 paper

NM_000038.6

p.S1507fs

c.4519_4520fs

1 paper

NM_000038.6

p.S1507_E1513delFs

c.4521_4537del17

1 paper

NM_000038.6

p.L1509fs

c.4525_4526fs

1 paper

NM_000038.6

p.L1509insFs

c.4526_4527insT

1 paper

NM_000038.6

p.L1509delFs

c.4526delT

1 paper

NM_000038.6

p.L1509delFs

c.4526_4527delTG

1 paper

NM_000038.6

p.L1509_S1510insFs

c.4527_4528insCT

1 paper

NM_000038.6

p.L1506Q

c.4517T>A

2 papers

NM_000038.6

p.L1506R

c.4517T>G