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

2 papers

NM_000038.6

p.E201G

c.602A>G

Surrounding Variants

1 paper

NM_000038.6

p.E201A

c.602A>C

1 paper

NM_000038.6

p.E201E

c.603A>G

1 paper

NM_000038.6

p.E202_G205del4

c.604_614del12

1 paper

NM_000038.6

p.E201K

c.601G>A

2 papers

NM_000038.6

p.E201Q

c.601G>C

1 paper

NM_000038.6

p.E201fs

c.601_602fs

5 papers

NM_000038.6

p.E201*

c.601G>T

1 paper

NM_000038.6

p.M200I

c.600G>A

1 paper

NM_000038.6

p.E202K

c.604G>A

1 paper

NM_000038.6

p.E202insFs

c.606dupA

4 papers

NM_000038.6

p.E202*

c.604G>T

2 papers

NM_000038.6

p.E202A

c.605A>C