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

2 papers

NM_000038.6

p.L1862L

c.5586G>A

Surrounding Variants

1 paper

NM_000038.6

p.L1862F

c.5586G>C

1 paper

NM_000038.6

p.L1862F

c.5586G>T

3 papers

NM_000038.6

p.S1863_D1866del4

c.5587_5597del12

1 paper

NM_000038.6

p.S1863delFs

c.5589delT

7 papers

NM_000038.6

p.S1861Y

c.5582C>A

1 paper

NM_000038.6

p.S1861F

c.5582C>T

1 paper

NM_000038.6

p.S1864A

c.5590T>G

1 paper

NM_000038.6

p.S1864fs

c.5590_5591fs

3 papers

NM_000038.6

p.S1864Y

c.5591C>A

2 papers

NM_000038.6

p.S1864C

c.5591C>G

1 paper

NM_000038.6

p.S1861T

c.5581T>A

1 paper

NM_000038.6

p.S1861_L1862delFs

c.5582_5585del4