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.H1092R

c.3275A>G

Surrounding Variants

1 paper

NM_000038.6

p.H1092insFs

c.3275_3276insG

1 paper

NM_000038.6

p.F1093insFs

c.3279dupT

4 papers

NM_000038.6

p.H1092Y

c.3274C>T

1 paper

NM_000038.6

p.F1093L

c.3277T>C

1 paper

NM_000038.6

p.F1093V

c.3277T>G

2 papers

NM_000038.6

p.P1091L

c.3272C>T

1 paper

NM_000038.6

p.F1093S

c.3278T>C

2 papers

NM_000038.6

p.P1091S

c.3271C>T

1 paper

NM_000038.6

p.P1091fs

c.3271_3272fs

1 paper

NM_000038.6

p.F1093L

c.3279T>A

3 papers

NM_000038.6

p.F1093L

c.3279T>G

1 paper

NM_000038.6

p.G1094delFs

c.3281delG