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

2 papers

NM_000038.6

p.H286Q

c.858T>G

Surrounding Variants

1 paper

NM_000038.6

p.H286P

c.857A>C

1 paper

NM_000038.6

p.H286delFs

c.858delT

4 papers

NM_000038.6

p.E287K

c.859G>A

2 papers

NM_001127511.3

p.E269fs

c.805_806fs

NM_000038.6

p.E287fs

c.859_860fs

4 papers

NM_000038.6

p.E287*

c.859G>T

3 papers

NM_000038.6

p.E287fs

c.859_860fs

1 paper

NM_001127511.3

p.E269insFs

c.806_807ins7

2 papers

NM_000038.6

p.H286fs

c.856_857fs

1 paper

NM_000038.6

p.E287D

c.861A>C

1 paper

NM_000038.6

p.E287E

c.861A>G

1 paper

NM_000038.6

p.E287D

c.861A>T

3 papers

NM_000038.6

p.H286_E287insFs

c.856_859dup4