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.R1833G

c.5497A>G

Surrounding Variants

1 paper

NM_000038.6

p.R1833fs

c.5497_5498fs

1 paper

NM_000038.6

p.R1833K

c.5498G>A

1 paper

NM_000038.6

p.R1833T

c.5498G>C

3 papers

NM_000038.6

p.V1834_G1836del0

c.5501_5506del6

1 paper

NM_000038.6

p.R1833S

c.5499A>T

1 paper

NM_000038.6

p.D1832N

c.5494G>A

1 paper

NM_000038.6

p.D1832fs

c.5494_5495fs

1 paper

NM_000038.6

p.V1834F

c.5500G>T

1 paper

NM_000038.6

p.E1831D

c.5493A>C

1 paper

NM_000038.6

p.E1831D

c.5493A>T

1 paper

NM_000038.6

p.V1834V

c.5502C>T

4 papers

NM_000038.6

p.R1835G

c.5503A>G