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.A1225A

c.3675C>A

Surrounding Variants

2 papers

NM_000038.6

p.K1226delFs

c.3676_3677delAA

3 papers

NM_000038.6

p.K1226*

c.3676A>T

1 paper

NM_000038.6

p.A1225V

c.3674C>T

2 papers

NM_000038.6

p.K1226R

c.3677A>G

1 paper

NM_000038.6

p.A1225insFs

c.3675dupC

2 papers

NM_000038.6

p.A1225S

c.3673G>T

1 paper

NM_000038.6

p.N1224fs

c.3670_3671fs

1 paper

NM_000038.6

p.N1224_Q1230delFs

c.3670_3688del19

1 paper

NM_000038.6

p.Q1228insFs

c.3682_3683insA

1 paper

NM_000038.6

p.S1223C

c.3668C>G

10 papers

NM_000038.6

p.Q1228*

c.3682C>T

2 papers

NM_000038.6

p.S1223F

c.3668C>T