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.E129*

c.385G>T

Surrounding Variants

1 paper

NM_000038.6

p.E129K

c.385G>A

12 papers

NM_000038.6

p.E129Q

c.385G>C

1 paper

NM_000038.6

p.E129fs

c.385_386fs

1 paper

NM_000038.6

p.S130delFs

c.388delA

1 paper

NM_000038.6

p.E129insFs

c.386_387insT

1 paper

NM_000038.6

p.E129A

c.386A>C

4 papers

NM_000038.6

p.E129G

c.386A>G

2 papers

NM_001127511.3

p.R138R

c.414A>G

NM_000038.6

p.R128R

c.384A>G

1 paper

NM_000038.6

p.E129V

c.386A>T

1 paper

NM_000038.6

p.E129_S130insFs

c.387_388insC

1 paper

NM_000038.6

p.E129_S130insFs

c.387_388insT

1 paper

NM_000038.6

p.E129E

c.387A>G