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.A2479V

c.7436C>T

Surrounding Variants

1 paper

NM_000038.6

p.A2479E

c.7436C>A

2 papers

NM_000038.6

p.Q2478R

c.7433A>G

1 paper

NM_000038.6

p.S2477P

c.7429T>C

3 papers

NM_000038.6

p.P2482S

c.7444C>T

1 paper

NM_000038.6

p.R2476R

c.7428G>A

2 papers

NM_000038.6

p.P2482L

c.7445C>T

1 paper

NM_000038.6

p.P2482delFs

c.7446delA

2 papers

NM_000038.6

p.P2474L

c.7421C>T

2 papers

NM_000038.6

p.L2484delFs

c.7452delA

1 paper

NM_000038.6

p.P2474insFs

c.7420_7421insA

1 paper

NM_000038.6

p.P2474S

c.7420C>T

1 paper

NM_000038.6

p.S2485fs

c.7453_7454fs