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

1 paper

NM_000038.6

p.R1450fs

c.4348_4349fs

Surrounding Variants

3 papers

NM_000038.6

p.R1450fs

c.4348_4349fs

1 paper

NM_000038.6

p.R1450G

c.4348C>G

328 papers

NM_000038.6

p.R1450*

c.4348C>T

NM_001127511.3

p.R1432*

c.4294C>T

1 paper

NM_000038.6

p.R1450delFs

c.4349delG

5 papers

NM_000038.6

p.R1450Q

c.4349G>A

1 paper

NM_000038.6

p.K1449K

c.4347G>A

1 paper

NM_000038.6

p.R1450delFs

c.4350delA

1 paper

NM_000038.6

p.R1450_P1453delFs

c.4348_4357del10

1 paper

NM_000038.6

p.R1450R

c.4350A>G

1 paper

NM_000038.6

p.R1450R

c.4350A>T

2 papers

NM_000038.6

p.K1449fs

c.4345_4346fs

1 paper

NM_000038.6

p.K1449E

c.4345A>G