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.P2747A

c.8239C>G

Surrounding Variants

1 paper

NM_000038.6

p.P2747L

c.8240C>T

1 paper

NM_000038.6

p.V2748V

c.8244A>G

1 paper

NM_000038.6

p.P2745L

c.8234C>T

1 paper

NM_000038.6

p.S2749P

c.8245T>C

1 paper

NM_000038.6

p.S2749L

c.8246C>T

1 paper

NM_000038.6

p.S2749S

c.8247A>G

1 paper

NM_000038.6

p.E2750K

c.8248G>A

1 paper

NM_000038.6

p.E2750Q

c.8248G>C

1 paper

NM_000038.6

p.N2743D

c.8227A>G

1 paper

NM_000038.6

p.T2751A

c.8251A>G

2 papers

NM_000038.6

p.T2751I

c.8252C>T

1 paper

NM_000038.6

p.N2752_E2753ins4

c.8254_8258ins12