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.G2836V

c.8507G>T

Surrounding Variants

1 paper

NM_000038.6

p.S2837T

c.8509T>A

1 paper

NM_000038.6

p.S2835Y

c.8504C>A

1 paper

NM_000038.6

p.S2835F

c.8504C>T

1 paper

NM_000038.6

p.H2834Q

c.8502T>A

1 paper

NM_000038.6

p.H2834Q

c.8502T>G

2 papers

NM_000038.6

p.Y2838fs

c.8512_8513fs

2 papers

NM_000038.6

p.H2834P

c.8501A>C

2 papers

NM_000038.6

p.Y2838*

c.8514C>A

2 papers

NM_000038.6

p.Y2838*

c.8514C>G

1 paper

NM_000038.6

p.H2834Y

c.8500C>T

5 papers

NM_000038.6

p.L2839F

c.8515C>T

1 paper

NM_000038.6

p.R2833R

c.8499C>T