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.S1837S

c.5511T>C

Surrounding Variants

1 paper

NM_000038.6

p.S1837N

c.5510G>A

1 paper

NM_000038.6

p.F1838fs

c.5512_5513fs

2 papers

NM_000038.6

p.F1838_A1839del1

c.5514_5516delTGC

2 papers

NM_000038.6

p.G1836E

c.5507G>A

2 papers

NM_000038.6

p.A1839T

c.5515G>A

1 paper

NM_000038.6

p.G1836A

c.5507G>C

2 papers

NM_000038.6

p.A1839fs

c.5515_5516fs

1 paper

NM_000038.6

p.A1839S

c.5515G>T

3 papers

NM_000038.6

p.A1839V

c.5516C>T

1 paper

NM_000038.6

p.G1836R

c.5506G>A

1 paper

NM_000038.6

p.G1836R

c.5506G>C

1 paper

NM_000038.6

p.G1836fs

c.5506_5507fs