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.L235fs

c.703_704fs

Surrounding Variants

1 paper

NM_000038.6

p.L235V

c.703T>G

2 papers

NM_000038.6

p.L235_Q236insCT

c.703_707ins6

1 paper

NM_000038.6

p.L235fs

c.703_704fs

2 papers

NM_000038.6

p.L235*

c.704T>A

1 paper

NM_000038.6

p.L235S

c.704T>C

1 paper

NM_000038.6

p.L235*

c.704T>G

1 paper

NM_000038.6

p.L235insFs

c.704_705insA

8 papers

NM_000038.6

p.L235L

c.705A>G

1 paper

NM_000038.6

p.L235F

c.705A>T

1 paper

NM_000038.6

p.L234P

c.701T>C

1 paper

NM_000038.6

p.L234I

c.700C>A

1 paper

NM_000038.6

p.L234V

c.700C>G