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

5 papers

NM_000038.6

p.S874*

c.2621C>G

Surrounding Variants

5 papers

NM_000038.6

p.S874*

c.2621C>A

1 paper

NM_000038.6

p.S874T

c.2620T>A

1 paper

NM_000038.6

p.S874A

c.2620T>G

3 papers

NM_000038.6

p.K875R

c.2624A>G

1 paper

NM_000038.6

p.K875M

c.2624A>T

1 paper

NM_000038.6

p.S873F

c.2618C>T

1 paper

NM_000038.6

p.S873P

c.2617T>C

1 paper

NM_000038.6

p.R876R

c.2626C>A

233 papers

NM_000038.6

p.R876*

c.2626C>T

NM_001127511.3

p.R858*

c.2572C>T

1 paper

NM_000038.6

p.T872T

c.2616T>G

1 paper

NM_000038.6

p.S873delFs

c.2618_2619delCT

10 papers

NM_000038.6

p.R876Q

c.2627G>A