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.S2394R

c.7180A>C

Surrounding Variants

1 paper

NM_000038.6

p.R2393K

c.7178G>A

1 paper

NM_000038.6

p.S2394R

c.7182T>A

1 paper

NM_000038.6

p.S2394R

c.7182T>G

1 paper

NM_000038.6

p.R2393_S2394insT

c.7177_7181ins3

1 paper

NM_000038.6

p.E2395*

c.7183G>T

1 paper

NM_000038.6

p.P2392L

c.7175C>T

2 papers

NM_000038.6

p.P2392T

c.7174C>A

2 papers

NM_000038.6

p.P2392S

c.7174C>T

1 paper

NM_000038.6

p.S2398_K2399insT

c.7192_7196ins3

2 papers

NM_000038.6

p.S2398F

c.7193C>T

1 paper

NM_000038.6

p.S2389N

c.7166G>A

1 paper

NM_000038.6

p.K2399_G2400insA

c.7195_7199ins3