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.R2347W

c.7039A>T

Surrounding Variants

4 papers

NM_000038.6

p.P2346L

c.7037C>T

2 papers

NM_000038.6

p.R2347S

c.7041G>C

2 papers

NM_000038.6

p.R2347S

c.7041G>T

1 paper

NM_000038.6

p.T2348A

c.7042A>G

13 papers

NM_000038.6

p.P2346S

c.7036C>T

2 papers

NM_000038.6

p.T2348I

c.7043C>T

1 paper

NM_000038.6

p.L2345F

c.7033C>T

1 paper

NM_000038.6

p.Q2344_L2345insT

c.7030_7034ins3

1 paper

NM_000038.6

p.Q2344delFs

c.7032delA

2 papers

NM_000038.6

p.S2350F

c.7049C>T

1 paper

NM_000038.6

p.S2343F

c.7028C>T

1 paper

NM_000038.6

p.P2351A

c.7051C>G