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

15 papers

NM_000038.6

p.V1352A

c.4055T>C

NM_001127511.3

p.V1334A

c.4001T>C

Surrounding Variants

2 papers

NM_000038.6

p.V1352I

c.4054G>A

1 paper

NM_000038.6

p.V1352delFs

c.4056delT

1 paper

NM_000038.6

p.E1353insFs

c.4057dupG

1 paper

NM_000038.6

p.E1353delFs

c.4057delG

3 papers

NM_000038.6

p.E1353K

c.4057G>A

5 papers

NM_000038.6

p.E1353fs

c.4057_4058fs

62 papers

NM_000038.6

p.E1353*

c.4057G>T

2 papers

NM_000038.6

p.E1353delFs

c.4059delA

1 paper

NM_000038.6

p.E1353delFs

c.4058_4059delAA

4 papers

NM_000038.6

p.E1353fs

c.4057_4058fs

1 paper

NM_000038.6

p.A1351A

c.4053T>C

1 paper

NM_000038.6

p.E1353G

c.4058A>G