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_001127511.3

p.V2094delFs

c.6281delT

Surrounding Variants

1 paper

NM_000038.6

p.V2112I

c.6334G>A

1 paper

NM_000038.6

p.I2111T

c.6332T>C

2 papers

NM_000038.6

p.S2113fs

c.6337_6338fs

1 paper

NM_000038.6

p.S2113N

c.6338G>A

1 paper

NM_000038.6

p.S2113T

c.6338G>C

1 paper

NM_000038.6

p.S2113I

c.6338G>T

1 paper

NM_000038.6

p.S2110C

c.6329C>G

1 paper

NM_000038.6

p.S2110F

c.6329C>T

1 paper

NM_000038.6

p.S2114T

c.6341G>C

1 paper

NM_000038.6

p.L2115delFs

c.6344delT

1 paper

NM_000038.6

p.S2110_S2113delFs

c.6328_6337del10

1 paper

NM_000038.6

p.N2109S

c.6326A>G