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.R121R

c.363A>G

Surrounding Variants

3 papers

NM_000038.6

p.G122delFs

c.366delG

3 papers

NM_000038.6

p.R121K

c.362G>A

1 paper

NM_000038.6

p.G122R

c.364G>A

2 papers

NM_000038.6

p.R121T

c.362G>C

2 papers

NM_000038.6

p.G122R

c.364G>C

1 paper

NM_000038.6

p.G122fs

c.364_365fs

1 paper

NM_000038.6

p.R121I

c.362G>T

1 paper

NM_000038.6

p.G122W

c.364G>T

1 paper

NM_000038.6

p.R121G

c.361A>G

1 paper

NM_000038.6

p.R121*

c.361A>T

1 paper

NM_000038.6

p.G122E

c.365G>A

2 papers

NM_000038.6

p.G122A

c.365G>C