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.S2025N

c.6074G>A

Surrounding Variants

1 paper

NM_000038.6

p.S2025insFs

c.6073_6074ins5

1 paper

NM_000038.6

p.S2025G

c.6073A>G

1 paper

NM_000038.6

p.S2025fs

c.6073_6074fs

1 paper

NM_000038.6

p.N2024S

c.6071A>G

8 papers

NM_000038.6

p.S2026Y

c.6077C>A

2 papers

NM_000038.6

p.S2026F

c.6077C>T

1 paper

NM_000038.6

p.R2023K

c.6068G>A

2 papers

NM_000038.6

p.R2023T

c.6068G>C

4 papers

NM_000038.6

p.R2023I

c.6068G>T

1 paper

NM_000038.6

p.L2027P

c.6080T>C

1 paper

NM_000038.6

p.S2028R

c.6082A>C

1 paper

NM_000038.6

p.S2028N

c.6083G>A