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.G2502D

c.7505G>A

Surrounding Variants

62 papers

NM_000038.6

p.G2502S

c.7504G>A

2 papers

NM_000038.6

p.G2502R

c.7504G>C

1 paper

NM_000038.6

p.G2503_W2504del2

c.7507_7511del6

1 paper

NM_000038.6

p.G2503fs

c.7507_7508fs

1 paper

NM_000038.6

p.A2501V

c.7502C>T

1 paper

NM_000038.6

p.G2503E

c.7508G>A

1 paper

NM_000038.6

p.A2501S

c.7501G>T

1 paper

NM_000038.6

p.Q2500Q

c.7500G>A

3 papers

NM_000038.6

p.W2504*

c.7511G>A

1 paper

NM_000038.6

p.Q2500K

c.7498C>A

3 papers

NM_000038.6

p.W2504*

c.7512G>A

1 paper

NM_000038.6

p.R2505G

c.7513C>G