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.I880L

c.2638A>C

Surrounding Variants

1 paper

NM_000038.6

p.I880_S881insA

c.2638_2642ins3

2 papers

NM_000038.6

p.I880F

c.2638A>T

1 paper

NM_000038.6

p.Q879H

c.2637G>C

1 paper

NM_000038.6

p.I880insFs

c.2638_2639dupAT

1 paper

NM_000038.6

p.Q879H

c.2637G>T

4 papers

NM_000038.6

p.I880delFs

c.2638delA

6 papers

NM_000038.6

p.I880T

c.2639T>C

1 paper

NM_000038.6

p.Q879R

c.2636A>G

1 paper

NM_000038.6

p.Q879L

c.2636A>T

2 papers

NM_000038.6

p.I880I

c.2640C>T

1 paper

NM_000038.6

p.Q879fs

c.2635_2636fs

1 paper

NM_000038.6

p.Q879_I880ins6

c.2635_2639ins18