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.R2126G

c.6376A>G

Surrounding Variants

1 paper

NM_000038.6

p.R2126S

c.6378A>C

1 paper

NM_000038.6

p.R2126S

c.6378A>T

1 paper

NM_000038.6

p.S2125fs

c.6373_6374fs

1 paper

NM_000038.6

p.Q2127P

c.6380A>C

1 paper

NM_000038.6

p.L2124L

c.6372A>G

1 paper

NM_000038.6

p.L2124*

c.6371T>A

1 paper

NM_000038.6

p.L2124*

c.6371T>G

1 paper

NM_000038.6

p.A2128S

c.6382G>T

2 papers

NM_000038.6

p.A2128V

c.6383C>T

1 paper

NM_000038.6

p.C2123*

c.6369T>A

1 paper

NM_000038.6

p.C2123W

c.6369T>G

1 paper

NM_000038.6

p.C2123Y

c.6368G>A