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

8 papers

NM_000038.6

p.R1146C

c.3436C>T

Surrounding Variants

1 paper

NM_000038.6

p.R1146fs

c.3436_3437fs

1 paper

NM_000038.6

p.E1145E

c.3435A>G

6 papers

NM_000038.6

p.R1146H

c.3437G>A

3 papers

NM_000038.6

p.Y1147insFs

c.3439dupT

1 paper

NM_000038.6

p.R1146L

c.3437G>T

1 paper

NM_000038.6

p.E1145G

c.3434A>G

1 paper

NM_000038.6

p.E1145K

c.3433G>A

5 papers

NM_000038.6

p.E1145*

c.3433G>T

1 paper

NM_000038.6

p.Y1147insFs

c.3440dupA

1 paper

NM_000038.6

p.Y1147fs

c.3439_3440fs

1 paper

NM_000038.6

p.Y1147S

c.3440A>C

1 paper

NM_000038.6

p.Y1147C

c.3440A>G