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.V1251V

c.3753T>C

Surrounding Variants

1 paper

NM_000038.6

p.S1252_T1258delFs

c.3754_3772del19

1 paper

NM_000038.6

p.V1251D

c.3752T>A

1 paper

NM_000038.6

p.S1252fs

c.3754_3755fs

1 paper

NM_000038.6

p.S1252Y

c.3755C>A

3 papers

NM_000038.6

p.S1252F

c.3755C>T

1 paper

NM_000038.6

p.S1252delFs

c.3756delT

5 papers

NM_000038.6

p.V1251I

c.3751G>A

1 paper

NM_000038.6

p.V1251fs

c.3751_3752fs

2 papers

NM_000038.6

p.V1251insFs

c.3752_3753insT

1 paper

NM_000038.6

p.V1251F

c.3751G>T

2 papers

NM_000038.6

p.V1251delFs

c.3752delT

1 paper

NM_000038.6

p.K1250N

c.3750A>C