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

4 papers

NM_000038.6

p.R1051delFs

c.3151delA

Surrounding Variants

1 paper

NM_000038.6

p.A1050V

c.3149C>T

1 paper

NM_000038.6

p.A1050T

c.3148G>A

1 paper

NM_000038.6

p.A1050fs

c.3148_3149fs

10 papers

NM_000038.6

p.A1050delFs

c.3149delC

2 papers

NM_000038.6

p.A1050fs

c.3148_3149fs

1 paper

NM_000038.6

p.R1051R

c.3151A>C

1 paper

NM_000038.6

p.R1051*

c.3151A>T

17 papers

NM_000038.6

p.W1049*

c.3147G>A

17 papers

NM_000038.6

p.W1049*

c.3146G>A

1 paper

NM_000038.6

p.R1051K

c.3152G>A

1 paper

NM_000038.6

p.W1049L

c.3146G>T

1 paper

NM_000038.6

p.R1051S

c.3153A>C