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.S171R

c.513T>A

Surrounding Variants

1 paper

NM_000038.6

p.S171S

c.513T>C

2 papers

NM_000038.6

p.S171R

c.513T>G

2 papers

NM_000038.6

p.P173_L174delFs

c.517_520del4

1 paper

NM_000038.6

p.L172insFs

c.514_515insCA

2 papers

NM_000038.6

p.L172insFs

c.515_516insT

3 papers

NM_001127511.3

p.L182F

c.544C>T

NM_000038.6

p.L172F

c.514C>T

3 papers

NM_000038.6

p.S171N

c.512G>A

2 papers

NM_000038.6

p.S171I

c.512G>T

1 paper

NM_000038.6

p.S171_L172delFs

c.513_516del4

2 papers

NM_000038.6

p.S171fs

c.511_512fs

2 papers

NM_000038.6

p.S171R

c.511A>C

1 paper

NM_000038.6

p.S171G

c.511A>G