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.G2069R

c.6205G>C

Surrounding Variants

1 paper

NM_000038.6

p.G2069S

c.6205G>A

1 paper

NM_000038.6

p.M2068I

c.6204G>A

1 paper

NM_000038.6

p.M2068I

c.6204G>C

1 paper

NM_000038.6

p.M2068I

c.6204G>T

1 paper

NM_000038.6

p.M2068T

c.6203T>C

2 papers

NM_000038.6

p.G2070S

c.6208G>A

1 paper

NM_000038.6

p.G2070D

c.6209G>A

2 papers

NM_000038.6

p.N2067D

c.6199A>G

1 paper

NM_000038.6

p.I2071V

c.6211A>G

1 paper

NM_000038.6

p.I2071T

c.6212T>C

1 paper

NM_000038.6

p.R2066K

c.6197G>A

3 papers

NM_000038.6

p.R2066G

c.6196A>G