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.V2436A

c.7307T>C

Surrounding Variants

1 paper

NM_000038.6

p.V2436V

c.7308A>T

1 paper

NM_000038.6

p.V2436I

c.7306G>A

1 paper

NM_000038.6

p.L2437S

c.7310T>C

1 paper

NM_000038.6

p.P2435A

c.7303C>G

1 paper

NM_000038.6

p.P2435S

c.7303C>T

1 paper

NM_000038.6

p.R2434R

c.7302A>G

2 papers

NM_000038.6

p.R2434K

c.7301G>A

3 papers

NM_000038.6

p.R2434I

c.7301G>T

4 papers

NM_000038.6

p.R2439C

c.7315C>T

2 papers

NM_000038.6

p.R2434_L2437del4

c.7300_7310del12

1 paper

NM_000038.6

p.R2439H

c.7316G>A

1 paper

NM_000038.6

p.S2441*

c.7322C>A