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

2 papers

NM_000038.6

p.L1927_Q1928ins1

c.5781_5782insCTA

Surrounding Variants

5 papers

NM_000038.6

p.Q1928delFs

c.5782delC

1 paper

NM_000038.6

p.Q1928_S1937del10

c.5782_5810del30

4 papers

NM_000038.6

p.Q1928fs

c.5782_5783fs

3 papers

NM_000038.6

p.Q1928*

c.5782C>T

3 papers

NM_000038.6

p.Q1928fs

c.5782_5783fs

1 paper

NM_000038.6

p.L1927_Q1928insFs

c.5781_5782ins5

1 paper

NM_000038.6

p.I1926M

c.5778A>G

1 paper

NM_000038.6

p.K1929_Q1930delFs

c.5787_5790del4

1 paper

NM_000038.6

p.K1929fs

c.5785_5786fs

1 paper

NM_000038.6

p.K1929E

c.5785A>G

1 paper

NM_000038.6

p.K1929fs

c.5785_5786fs

2 papers

NM_000038.6

p.Q1930*

c.5788C>T