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

3 papers

NM_000038.6

p.S1581fs

c.4741_4742fs

Surrounding Variants

1 paper

NM_000038.6

p.S1581delFs

c.4742delC

2 papers

NM_000038.6

p.S1581F

c.4742C>T

1 paper

NM_000038.6

p.S1581delFs

c.4743delT

1 paper

NM_000038.6

p.S1581_K1590del10

c.4741_4769del30

1 paper

NM_000038.6

p.I1580N

c.4739T>A

1 paper

NM_000038.6

p.S1581S

c.4743T>C

1 paper

NM_000038.6

p.S1581_A1582delins

c.4743_4744delinsCC

1 paper

NM_000038.6

p.A1582delFs

c.4744delG

5 papers

NM_000038.6

p.I1580fs

c.4738_4739fs

2 papers

NM_000038.6

p.S1581insFs

c.4741dupT

1 paper

NM_000038.6

p.I1580V

c.4738A>G

3 papers

NM_000038.6

p.I1580delFs

c.4740delT