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.M284L

c.850A>C

Surrounding Variants

1 paper

NM_000038.6

p.M284L

c.850A>T

7 papers

NM_000038.6

p.R283Q

c.848G>A

2 papers

NM_000038.6

p.M284I

c.852G>A

2 papers

NM_000038.6

p.M284I

c.852G>C

1 paper

NM_000038.6

p.R283P

c.848G>C

2 papers

NM_000038.6

p.M284I

c.852G>T

1 paper

NM_000038.6

p.R283L

c.848G>T

116 papers

NM_000038.6

p.R283*

c.847C>T

NM_001127511.3

p.R265*

c.793C>T

4 papers

NM_000038.6

p.D285N

c.853G>A

3 papers

NM_000038.6

p.D285G

c.854A>G

1 paper

NM_000038.6

p.D285delFs

c.855delC

3 papers

NM_000038.6

p.H286_E287insFs

c.856_859dup4