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.M330V

c.988A>G

Surrounding Variants

1 paper

NM_000038.6

p.M330fs

c.988_989fs

1 paper

NM_000038.6

p.M330_S331del1

c.989_991delTGT

1 paper

NM_000038.6

p.D329G

c.986A>G

2 papers

NM_000038.6

p.M330I

c.990G>A

2 papers

NM_000038.6

p.M330I

c.990G>C

2 papers

NM_000038.6

p.M330I

c.990G>T

1 paper

NM_000038.6

p.S331_A336delFs

c.992_1008del17

1 paper

NM_000038.6

p.D329N

c.985G>A

1 paper

NM_000038.6

p.M330delFs

c.988_989delAT

1 paper

NM_000038.6

p.S331P

c.991T>C

5 papers

NM_000038.6

p.S331L

c.992C>T

1 paper

NM_000038.6

p.D328G

c.983A>G