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

6 papers

NM_000038.6

p.R1105W

c.3313C>T

Surrounding Variants

1 paper

NM_000038.6

p.R1105fs

c.3313_3314fs

1 paper

NM_000038.6

p.R1105G

c.3313C>G

5 papers

NM_000038.6

p.G1106delFs

c.3317delG

1 paper

NM_000038.6

p.S1104_R1105insFs

c.3312_3313insGC

7 papers

NM_000038.6

p.R1105Q

c.3314G>A

3 papers

NM_000038.6

p.G1106_A1107insFs

c.3316_3319dup4

1 paper

NM_000038.6

p.R1105L

c.3314G>T

6 papers

NM_000038.6

p.S1104*

c.3311C>A

6 papers

NM_000038.6

p.S1104*

c.3311C>G

1 paper

NM_000038.6

p.G1106R

c.3316G>A

1 paper

NM_000038.6

p.G1106R

c.3316G>C

2 papers

NM_000038.6

p.G1106fs

c.3316_3317fs