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.V1390fs

c.4168_4169fs

Surrounding Variants

3 papers

NM_000038.6

p.V1390fs

c.4168_4169fs

2 papers

NM_000038.6

p.V1390F

c.4168G>T

1 paper

NM_000038.6

p.V1390delFs

c.4169_4170delTC

1 paper

NM_000038.6

p.S1391_S1392delFs

c.4172_4176del5

1 paper

NM_000038.6

p.V1390D

c.4169T>A

1 paper

NM_000038.6

p.V1390A

c.4169T>C

1 paper

NM_000038.6

p.V1390delFs

c.4168delG

1 paper

NM_000038.6

p.S1389Y

c.4166C>A

1 paper

NM_000038.6

p.S1389F

c.4166C>T

1 paper

NM_000038.6

p.V1390V

c.4170C>T

1 paper

NM_000038.6

p.S1391delFs

c.4171delA

1 paper

NM_000038.6

p.S1389delFs

c.4167delT