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.R1273G

c.3817A>G

Surrounding Variants

4 papers

NM_000038.6

p.R1273*

c.3817A>T

2 papers

NM_000038.6

p.R1273_C1274delFs

c.3818_3822del5

1 paper

NM_000038.6

p.S1272_R1273insFs

c.3816_3817ins14

1 paper

NM_000038.6

p.S1272S

c.3816A>G

1 paper

NM_000038.6

p.R1273T

c.3818G>C

1 paper

NM_000038.6

p.R1273_C1274insFs

c.3819_3820ins5

6 papers

NM_000038.6

p.S1272*

c.3815C>A

7 papers

NM_000038.6

p.S1272*

c.3815C>G

1 paper

NM_000038.6

p.S1272L

c.3815C>T

1 paper

NM_000038.6

p.S1272A

c.3814T>G

5 papers

NM_000038.6

p.S1272fs

c.3814_3815fs

2 papers

NM_000038.6

p.S1272fs

c.3814_3815fs