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.E2155G

c.6464A>G

Surrounding Variants

1 paper

NM_000038.6

p.E2155Q

c.6463G>C

1 paper

NM_000038.6

p.E2155*

c.6463G>T

2 papers

NM_000038.6

p.E2156*

c.6466G>T

1 paper

NM_000038.6

p.E2156G

c.6467A>G

1 paper

NM_000038.6

p.Q2154_E2155insA

c.6460_6464ins3

1 paper

NM_000038.6

p.K2157fs

c.6469_6470fs

1 paper

NM_000038.6

p.K2157T

c.6470A>C

2 papers

NM_000038.6

p.K2157R

c.6470A>G

2 papers

NM_000038.6

p.D2153N

c.6457G>A

1 paper

NM_000038.6

p.D2153Y

c.6457G>T

14 papers

NM_000038.6

p.P2158R

c.6473C>G

1 paper

NM_000038.6

p.P2152L

c.6455C>T