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.I231T

c.692T>C

Surrounding Variants

2 papers

NM_000038.6

p.I231M

c.693A>G

1 paper

NM_000038.6

p.I231V

c.691A>G

1 paper

NM_000038.6

p.R232G

c.694C>G

153 papers

NM_000038.6

p.R232*

c.694C>T

1 paper

NM_000038.6

p.R232fs

c.694_695fs

1 paper

NM_000038.6

p.R230R

c.690T>G

8 papers

NM_000038.6

p.R230H

c.689G>A

6 papers

NM_000038.6

p.R232Q

c.695G>A

1 paper

NM_000038.6

p.R230L

c.689G>T

1 paper

NM_000038.6

p.R232L

c.695G>T

1 paper

NM_000038.6

p.R232_L235delFs

c.696_705del10

1 paper

NM_000038.6

p.R230delFs

c.690delT