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.H1009H

c.3027T>C

Surrounding Variants

3 papers

NM_000038.6

p.S1010fs

c.3028_3029fs

2 papers

NM_000038.6

p.H1009R

c.3026A>G

1 paper

NM_000038.6

p.H1009_S1010insFs

c.3027_3028dupTA

1 paper

NM_000038.6

p.H1009D

c.3025C>G

2 papers

NM_000038.6

p.H1009Y

c.3025C>T

2 papers

NM_000038.6

p.S1010T

c.3029G>C

2 papers

NM_000038.6

p.S1010delins

c.3029_3030delinsCA

1 paper

NM_000038.6

p.A1011T

c.3031G>A

1 paper

NM_000038.6

p.N1012_T1023del12

c.3034_3068del36

1 paper

NM_000038.6

p.I1008fs

c.3022_3023fs

2 papers

NM_000038.6

p.I1008fs

c.3022_3023fs

1 paper

NM_000038.6

p.N1012insFs

c.3035dupA