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

6 papers

NM_000038.6

p.R1331*

c.3991A>T

Surrounding Variants

2 papers

NM_000038.6

p.R1331fs

c.3991_3992fs

1 paper

NM_000038.6

p.R1331G

c.3991A>G

2 papers

NM_000038.6

p.R1331K

c.3992G>A

3 papers

NM_000038.6

p.R1331insFs

c.3992_3993insA

1 paper

NM_000038.6

p.R1331insFs

c.3992_3993ins4

1 paper

NM_000038.6

p.T1332delFs

c.3994delA

1 paper

NM_000038.6

p.T1332_K1333delFs

c.3995_3999del5

1 paper

NM_000038.6

p.P1330P

c.3990T>A

1 paper

NM_000038.6

p.R1331delFs

c.3991delA

1 paper

NM_000038.6

p.P1330H

c.3989C>A

1 paper

NM_000038.6

p.P1330insFs

c.3989_3990insA

1 paper

NM_000038.6

p.P1330L

c.3989C>T